SARNP — 22 ClinVar variants
All ClinVar germline SARNP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
1 Likely benign · 21 Uncertain significance
Full SARNP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SARNP p.Ala198Pro Uncertain significance Single submitter
- SARNP p.Arg123Gln Uncertain significance Single submitter
- SARNP p.Gly191Ala Uncertain significance Single submitter
- SARNP p.His36Asp Uncertain significance Single submitter
- SARNP p.Ile164Met Uncertain significance Single submitter
- SARNP p.Lys17Arg Uncertain significance Single submitter
- SARNP p.Met144Thr Uncertain significance Single submitter
- SARNP p.Pro133Leu Uncertain significance Single submitter
- SARNP p.Pro143Ser Uncertain significance Single submitter
- SARNP p.Pro71Ser Uncertain significance Single submitter
- SARNP p.Pro77His Uncertain significance Single submitter
- SARNP p.Pro78Ser Uncertain significance Single submitter
- SARNP p.Ser118Gly Uncertain significance Single submitter
- SARNP p.Thr134Ala Uncertain significance Single submitter
- SARNP p.Thr5Met Uncertain significance Single submitter
- SARNP p.Val114Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All SARNP variants
Likely benign 1
- p.Thr3Ala Single submitter
Uncertain significance 21
- c.184-2A>G Single submitter myopathy
- p.Ala198Gly Single submitter ⚠
- p.Ala198Pro Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Glu62Lys Single submitter
- p.Gly191Ala Single submitter ⚠
- p.His36Asp Single submitter ⚠
- p.Ile164Met Single submitter ⚠
- p.Lys17Arg Single submitter ⚠
- p.Met144Thr Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro143Ser Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Pro77His Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser118Gly Single submitter ⚠
- p.Ser162Phe Single submitter ⚠
- p.Thr134Ala Single submitter ⚠
- p.Thr5Met Single submitter ⚠
- p.Val114Met Single submitter ⚠