2024-03-29 SAMD9L - NM_152703.5 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 5 I876Lfs*15 p.(Ile876Leufs*15) c.2626delA deletion 1 delA Likely pathogenic YES NO Sequencing Sanger Sequencing NGS Symptomatic SAMD9L-SAAD Unknown Unknown United states/Caucasian 2020-02-17 Publication (PubMed PMID): 31874111 Exon 5 K878Sfs*13 p.(Lys878Serfs*13) c.2633delA deletion 1 A Likely pathogenic YES YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic SAMD9L-SAAD Unknown Unknown Ukraine/Caucasian 2020-02-17 Publication (PubMed PMID): 31874111 34417303 Exon 5 H880Q p.(His880Gln) c.2640C>A substitution 1 C>A Not classified UNKNOWN NO Sequencing NGS Symptomatic Myelodysplastic syndrome (MDS) Heterozygous Inherited from an asymptomatic parent Germany/ 2021-08-26 Publication (PubMed PMID): 29217778 28852709 Exon 5 N885Tfs*6 p.(Asn885Thrfs*6) c.2654del deletion 1 A Likely pathogenic NO YES Culture studies Altered regulation Sequencing NGS Symptomatic SAMD9L-SAAD Heterozygous De novo China/Asian 2021-08-26 Publication (PubMed PMID): 34417303 Exon 5 F886Lfs*11 p.(Phe886Leufs*11) c.2658_2659delTT deletion 2 TT Likely pathogenic YES YES Culture studies inhibition of translational elongation Sequencing Sanger Sequencing NGS Symptomatic SAMD9L-SAAD Unknown Unknown United states/Caucasian The publication reported 3 patients with this same variant: one patient is alive post-bone marrow transplant, 2 patients are deceased due to complications of the autoinflammatory disease. 2020-02-17 Publication (PubMed PMID): 31874111 33724365/34894360 Exon 5 F889Sfs*2 p.(Phe889Serfs*2) c.2666delT deletion 1 T Likely pathogenic YES NO Sequencing Sanger Symptomatic SAMD9L-SAAD Unknown Unknown Argentina/Caucasian 2020-02-17 Publication (PubMed PMID): 31874111 Exon 5 I891T p.(Ile891Thr) c.2672T>C substitution 1 T>C Likely pathogenic NO YES Culture studies Altered regulation Sequencing NGS Symptomatic Myelodysplastic syndrome (MDS) Heterozygous Inherited from a symptomatic parent Finland/ 2021-08-26 Publication (PubMed PMID): 28202457 Exon 5 R986C p.(Arg986Cys) c.2956C>T substitution 1 C>T Likely pathogenic NO YES Culture studies Altered regulation Sequencing NGS Symptomatic Myelodysplastic syndrome (MDS) Heterozygous De novo Sweden/ 2021-08-26 Publication (PubMed PMID): 28202457 Exon 5 R986H p.(Arg986His) c.2957G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Symptomatic Myelodysplastic syndrome (MDS) Heterozygous Inherited from an asymptomatic parent Germany/ 2021-08-26 Publication (PubMed PMID): 29217778 Exon 5 R1281K p.(Arg1281Lys) c.3842G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Somatic monosomy 7 Heterozygous Unknown / 2021-08-26 Publication (PubMed PMID): 30046003 Exon 5 S1473N p.(Ser1473Asn) c.4418G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Symptomatic Ataxia Heterozygous Unknown /Caucasian 2021-08-26 Publication (PubMed PMID): 30923096 Exon 5 V1512M p.(Val1512Met) c.4534G>A substitution 1 G>A Not classified UNKNOWN NO Sequencing NGS Symptomatic Myelodysplastic syndrome (MDS) Heterozygous Inherited from an asymptomatic parent Germany/ 2021-08-26 Publication (PubMed PMID): 29217778 Exon 5 V1512A p.(Val1512Ala) c.4535T>C substitution 1 T>C Not classified UNKNOWN NO Sequencing NGS Somatic monosomy 7 Heterozygous Unknown / 2021-08-26 Publication (PubMed PMID): 30046003