SARS1 — 52 ClinVar variants
All ClinVar germline SARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 5 Likely benign · 40 Uncertain significance
Full SARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SARS1 p.Arg404Cys
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, ataxia, and seizures
- SARS1 p.Arg286Gln Uncertain significance Single submitter
-
SARS1 p.Arg317Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, ataxia, and seizures
- SARS1 p.Arg405Trp Uncertain significance Single submitter
- SARS1 p.Asn397Tyr Uncertain significance Single submitter
- SARS1 p.Asp150Asn Uncertain significance Single submitter
- SARS1 p.Asp289Glu Uncertain significance Single submitter
- SARS1 p.Glu130Lys Uncertain significance Single submitter
- SARS1 p.Glu204Lys Uncertain significance Single submitter
-
SARS1 p.Gly411Arg
Uncertain significance
Single submitter
hereditary peripheral neuropathy
- SARS1 p.His319Arg Uncertain significance Single submitter
- SARS1 p.Ser86Thr Uncertain significance Single submitter
- SARS1 p.Thr214Ile Uncertain significance Single submitter
- SARS1 p.Val187Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
-
SARS1 p.Arg121Gln
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, ataxia, and seizures
-
SARS1 p.Gly387Glu
Benign/Likely benign
Multiple submitters
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
- SARS1 p.Ala113Gly Uncertain significance Single submitter
- SARS1 p.Ala119Thr Uncertain significance Single submitter
- SARS1 p.Ala119Val Uncertain significance Single submitter
- SARS1 p.Ala348Thr Uncertain significance Single submitter
- SARS1 p.Arg157Lys Uncertain significance Single submitter
- SARS1 p.Arg281Gln Uncertain significance Single submitter
- SARS1 p.Arg286Trp Uncertain significance Single submitter
- SARS1 p.Asn335Asp Uncertain significance Single submitter
- SARS1 p.Asn52Ser Uncertain significance Single submitter
- SARS1 p.Cys117Tyr Uncertain significance Single submitter
- SARS1 p.Cys162Tyr Uncertain significance Single submitter
- SARS1 p.Glu183Lys Uncertain significance Single submitter
- SARS1 p.His333Asp Uncertain significance Single submitter
- SARS1 p.Ile269Val Uncertain significance Single submitter
- SARS1 p.Ile324Met Uncertain significance Single submitter
- SARS1 p.Leu207Val Uncertain significance Single submitter
-
SARS1 p.Leu377Phe
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, ataxia, and seizures
- SARS1 p.Pro358Ser Uncertain significance Single submitter
- SARS1 p.Pro81Leu Uncertain significance Single submitter
- SARS1 p.Pro81Ser Uncertain significance Single submitter
- SARS1 p.Ser241Cys Uncertain significance Single submitter
- SARS1 p.Ser368Cys Uncertain significance Single submitter
-
SARS1 p.Thr399Met
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, ataxia, and seizures
- SARS1 p.Thr413Ala Uncertain significance Single submitter
All SARS1 variants
Pathogenic 1
- p.Ile324Thr Single submitter arteriovenous malformations of the brain
Likely pathogenic 1
- c.447+1G>A Single submitter neurodevelopmental disorder with microcephaly, ataxia, and seizures
Benign 4
- c.288+9T>C Multiple submitters neurodevelopmental disorder with microcephaly, ataxia, and seizures
- c.970-22T>C Multiple submitters neurodevelopmental disorder with microcephaly, ataxia, and seizures
- p.Glu149= Multiple submitters
- c.1257+7G>A Single submitter
Benign/Likely benign 1
- p.Gly387Glu Multiple submitters hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ⚠
Likely benign 5
- p.Ala94Thr Single submitter
- p.Leu297= Single submitter
- p.Pro287= Single submitter
- p.Pro384= Single submitter
- p.Thr347= Single submitter
Uncertain significance 40
- p.Arg121Gln Multiple submitters neurodevelopmental disorder with microcephaly, ataxia, and seizures ⚠
- p.Arg404Cys Multiple submitters neurodevelopmental disorder with microcephaly, ataxia, and seizures ⚠
- p.Ala113Gly Single submitter ⚠
- p.Ala119Thr Single submitter ⚠
- p.Ala119Val Single submitter ⚠
- p.Ala348Thr Single submitter ⚠
- p.Arg157Lys Single submitter ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg286Gln Single submitter ⚠
- p.Arg286Trp Single submitter ⚠
- p.Arg317Gln Single submitter neurodevelopmental disorder with microcephaly, ataxia, and seizures ⚠
- p.Arg405Trp Single submitter ⚠
- p.Asn335Asp Single submitter ⚠
- p.Asn397Tyr Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Asp289Glu Single submitter ⚠
- p.Cys117Tyr Single submitter ⚠
- p.Cys162Tyr Single submitter ⚠
- p.Glu130Lys Single submitter ⚠
- p.Glu183Lys Single submitter ⚠
- p.Glu204Lys Single submitter ⚠
- p.Gly411Arg Single submitter hereditary peripheral neuropathy ⚠
- p.His319Arg Single submitter ⚠
- p.His333Asp Single submitter ⚠
- p.Ile269Val Single submitter ⚠
- p.Ile324Met Single submitter ⚠
- p.Leu207Val Single submitter ⚠
- p.Leu377Phe Single submitter neurodevelopmental disorder with microcephaly, ataxia, and seizures ⚠
- p.Pro358Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser241Cys Single submitter ⚠
- p.Ser368Cys Single submitter ⚠
- p.Ser86Thr Single submitter ⚠
- p.Thr214Ile Single submitter ⚠
- p.Thr399Met Single submitter neurodevelopmental disorder with microcephaly, ataxia, and seizures ⚠
- p.Thr413Ala Single submitter ⚠
- p.Val187Met Single submitter ⚠
- c.969+1_969+3del No assertion criteria