SAMM50 — 84 ClinVar variants
All ClinVar germline SAMM50 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
7 Benign · 5 Likely benign · 72 Uncertain significance
Full SAMM50 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SAMM50 p.Ala35Val Uncertain significance Single submitter
- SAMM50 p.Ala438Thr Uncertain significance Single submitter
- SAMM50 p.Arg155His Uncertain significance Single submitter
- SAMM50 p.Arg180Trp Uncertain significance Single submitter
- SAMM50 p.Arg205Gln Uncertain significance Single submitter
- SAMM50 p.Arg205Trp Uncertain significance Single submitter
- SAMM50 p.Arg233Gln Uncertain significance Single submitter
- SAMM50 p.Arg381Gln Uncertain significance Single submitter
- SAMM50 p.Arg423Cys Uncertain significance Single submitter
- SAMM50 p.Arg439Trp Uncertain significance Single submitter
- SAMM50 p.Arg7Gln Uncertain significance Single submitter
- SAMM50 p.Asn114Asp Uncertain significance Single submitter
- SAMM50 p.Cys65Arg Uncertain significance Single submitter
- SAMM50 p.Glu24Gly Uncertain significance Single submitter
- SAMM50 p.Glu298Gln Uncertain significance Single submitter
- SAMM50 p.Glu358Lys Uncertain significance Single submitter
- SAMM50 p.Glu41Ala Uncertain significance Single submitter
- SAMM50 p.Gly182Arg Uncertain significance Single submitter
- SAMM50 p.Gly230Ser Uncertain significance Single submitter
- SAMM50 p.Gly251Arg Uncertain significance Single submitter
- SAMM50 p.Gly363Ala Uncertain significance Single submitter
- SAMM50 p.Gly370Ser Uncertain significance Single submitter
- SAMM50 p.Gly371Ser Uncertain significance Single submitter
- SAMM50 p.Gly427Arg Uncertain significance Single submitter
- SAMM50 p.His5Tyr Uncertain significance Single submitter
- SAMM50 p.Ile309Thr Uncertain significance Single submitter
- SAMM50 p.Ile64Val Uncertain significance Single submitter
- SAMM50 p.Ile67Val Uncertain significance Single submitter
- SAMM50 p.Leu235Val Uncertain significance Single submitter
- SAMM50 p.Leu279Val Uncertain significance Single submitter
- SAMM50 p.Leu285Met Uncertain significance Single submitter
- SAMM50 p.Met135Val Uncertain significance Single submitter
- SAMM50 p.Met350Ile Uncertain significance Single submitter
- SAMM50 p.Met448Val Uncertain significance Single submitter
- SAMM50 p.Phe314Leu Uncertain significance Single submitter
- SAMM50 p.Pro13Ala Uncertain significance Single submitter
- SAMM50 p.Pro330Leu Uncertain significance Single submitter
- SAMM50 p.Ser294Asn Uncertain significance Single submitter
- SAMM50 p.Ser332Gly Uncertain significance Single submitter
- SAMM50 p.Ser349Arg Uncertain significance Single submitter
- SAMM50 p.Ser349Asn Uncertain significance Single submitter
- SAMM50 p.Ser357Asn Uncertain significance Single submitter
- SAMM50 p.Thr129Met Uncertain significance Single submitter
- SAMM50 p.Thr222Ala Uncertain significance Single submitter
- SAMM50 p.Thr241Met Uncertain significance Single submitter
- SAMM50 p.Trp220Arg Uncertain significance Single submitter
- SAMM50 p.Trp220Gly Uncertain significance Single submitter
- SAMM50 p.Trp424Arg Uncertain significance Single submitter
- SAMM50 p.Tyr426Cys Uncertain significance Single submitter
- SAMM50 p.Val118Ile Uncertain significance Single submitter
- SAMM50 p.Val122Ile Uncertain significance Single submitter
- SAMM50 p.Val190Leu Uncertain significance Single submitter
- SAMM50 p.Val431Phe Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SAMM50 p.Arg7Trp Uncertain significance Single submitter
- SAMM50 p.Arg81Trp Uncertain significance Single submitter
- SAMM50 p.Asp69Val Uncertain significance Single submitter
- SAMM50 p.Glu298Asp Uncertain significance Single submitter
- SAMM50 p.Gly410Ser Uncertain significance Single submitter
- SAMM50 p.Gly410Val Uncertain significance Single submitter
- SAMM50 p.His394Gln Uncertain significance Single submitter
- SAMM50 p.Leu402Phe Uncertain significance Single submitter
- SAMM50 p.Leu40Pro Uncertain significance Single submitter
- SAMM50 p.Lys194Asn Uncertain significance Single submitter
- SAMM50 p.Ser259Leu Uncertain significance Single submitter
- SAMM50 p.Ser266Cys Uncertain significance Single submitter
- SAMM50 p.Thr289Pro Uncertain significance Single submitter
- SAMM50 p.Tyr165Cys Uncertain significance Single submitter
- SAMM50 p.Tyr338Cys Uncertain significance Single submitter
All SAMM50 variants
Benign 7
- c.430-10C>T Multiple submitters
- c.777+6G>A Multiple submitters
- p.Glu34= Multiple submitters
- p.Gly137= Multiple submitters
- p.Lys306= Multiple submitters
- p.Thr207= Multiple submitters
- p.Asn398= Single submitter
Likely benign 5
- p.Val46Ile Multiple submitters
- p.Arg92His Single submitter
- p.Asn187= Single submitter
- p.Phe318Leu Single submitter
- p.Val446Ile Single submitter
Uncertain significance 72
- p.Ala35Val Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Arg155His Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg423Cys Single submitter ⚠
- p.Arg439Trp Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Asn114Asp Single submitter ⚠
- p.Asp69Val Single submitter ⚠
- p.Cys65Arg Single submitter ⚠
- p.Glu24Gly Single submitter ⚠
- p.Glu298Asp Single submitter ⚠
- p.Glu298Gln Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Glu41Ala Single submitter ⚠
- p.Gly182Arg Single submitter ⚠
- p.Gly230Ser Single submitter ⚠
- p.Gly251Arg Single submitter ⚠
- p.Gly363Ala Single submitter ⚠
- p.Gly370Ser Single submitter ⚠
- p.Gly371Ser Single submitter ⚠
- p.Gly410Ser Single submitter ⚠
- p.Gly410Val Single submitter ⚠
- p.Gly427Arg Single submitter ⚠
- p.His394Gln Single submitter ⚠
- p.His5Tyr Single submitter ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile64Val Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu235Val Single submitter ⚠
- p.Leu279Val Single submitter ⚠
- p.Leu285Met Single submitter ⚠
- p.Leu402Phe Single submitter ⚠
- p.Leu40Pro Single submitter ⚠
- p.Lys194Asn Single submitter ⚠
- p.Met135Val Single submitter ⚠
- p.Met350Ile Single submitter ⚠
- p.Met448Val Single submitter ⚠
- p.Phe314Leu Single submitter ⚠
- p.Pro13Ala Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro377Ala Single submitter
- p.Ser259Leu Single submitter ⚠
- p.Ser259Trp Single submitter
- p.Ser266Cys Single submitter ⚠
- p.Ser294Asn Single submitter ⚠
- p.Ser332Gly Single submitter ⚠
- p.Ser349Arg Single submitter ⚠
- p.Ser349Asn Single submitter ⚠
- p.Ser357Asn Single submitter ⚠
- p.Thr129Met Single submitter ⚠
- p.Thr196Ile Single submitter
- p.Thr222Ala Single submitter ⚠
- p.Thr241Met Single submitter ⚠
- p.Thr289Pro Single submitter ⚠
- p.Trp220Arg Single submitter ⚠
- p.Trp220Gly Single submitter ⚠
- p.Trp319Arg Single submitter
- p.Trp424Arg Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr338Cys Single submitter ⚠
- p.Tyr426Cys Single submitter ⚠
- p.Val118Ile Single submitter ⚠
- p.Val122Ile Single submitter ⚠
- p.Val190Leu Single submitter ⚠
- p.Val431Phe Single submitter ⚠