SLIRP — 20 ClinVar variants
All ClinVar germline SLIRP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 18 Uncertain significance
Full SLIRP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLIRP p.Ala5Thr Uncertain significance Single submitter
- SLIRP p.Ala6Ser Uncertain significance Single submitter
- SLIRP p.Arg94Lys Uncertain significance Single submitter
- SLIRP p.Asp103Asn Uncertain significance Single submitter
- SLIRP p.Gln34Lys Uncertain significance Single submitter
- SLIRP p.Gly43Ser Uncertain significance Single submitter
- SLIRP p.Gly8Val Uncertain significance Single submitter
- SLIRP p.Lys106Arg Uncertain significance Single submitter
- SLIRP p.Lys107Arg Uncertain significance Single submitter
- SLIRP p.Val20Leu Uncertain significance Single submitter
- SLIRP p.Val23Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SLIRP variants
Likely benign 2
- p.Ala6Val Single submitter
- p.Arg47Lys Single submitter
Uncertain significance 18
- c.98-2A>G Single submitter congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- p.Ala5Thr Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Arg94Lys Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp85Ala Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Gln34Lys Single submitter ⚠
- p.Glu71Gly Single submitter
- p.Gly43Ser Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.Leu73Phe Single submitter ⚠
- p.Leu77Gln Single submitter ⚠
- p.Lys106Arg Single submitter ⚠
- p.Lys107Arg Single submitter ⚠
- p.Trp64Arg Single submitter ⚠
- p.Val20Leu Single submitter ⚠
- p.Val23Met Single submitter ⚠