SND1 — 119 ClinVar variants
All ClinVar germline SND1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
6 Benign · 14 Likely benign · 99 Uncertain significance
Full SND1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SND1 p.Lys491Arg Uncertain significance Multiple submitters
- SND1 p.Ala15Gly Uncertain significance Single submitter
- SND1 p.Ala308Thr Uncertain significance Single submitter
- SND1 p.Ala514Thr Uncertain significance Single submitter
- SND1 p.Ala650Thr Uncertain significance Single submitter
- SND1 p.Ala65Val Uncertain significance Single submitter
- SND1 p.Ala835Val Uncertain significance Single submitter
- SND1 p.Ala885Val Uncertain significance Single submitter
- SND1 p.Arg321His Uncertain significance Single submitter
- SND1 p.Arg407Gln Uncertain significance Single submitter
- SND1 p.Arg503His Uncertain significance Single submitter
- SND1 p.Arg523Gln Uncertain significance Single submitter
- SND1 p.Arg523Trp Uncertain significance Single submitter
- SND1 p.Arg55Cys Uncertain significance Single submitter
- SND1 p.Arg749Gln Uncertain significance Single submitter
- SND1 p.Arg776His Uncertain significance Single submitter
- SND1 p.Arg787Gln Uncertain significance Single submitter
-
SND1 p.Arg866His
Uncertain significance
Single submitter
hypospadias
- SND1 p.Arg910His Uncertain significance Single submitter
- SND1 p.Asn143His Uncertain significance Single submitter
- SND1 p.Asp328Asn Uncertain significance Single submitter
- SND1 p.Asp340Asn Uncertain significance Single submitter
- SND1 p.Cys152Arg Uncertain significance Single submitter
- SND1 p.Cys152Gly Uncertain significance Single submitter
- SND1 p.Gln825Arg Uncertain significance Single submitter
- SND1 p.Glu579Lys Uncertain significance Single submitter
- SND1 p.Glu795Gln Uncertain significance Single submitter
- SND1 p.Gly169Asp Uncertain significance Single submitter
- SND1 p.Gly849Asp Uncertain significance Single submitter
- SND1 p.Gly854Asp Uncertain significance Single submitter
- SND1 p.Ile273Val Uncertain significance Single submitter
- SND1 p.Ile690Val Uncertain significance Single submitter
- SND1 p.Leu114Ile Uncertain significance Single submitter
- SND1 p.Leu360Gln Uncertain significance Single submitter
- SND1 p.Leu890Arg Uncertain significance Single submitter
- SND1 p.Met139Thr Uncertain significance Single submitter
- SND1 p.Pro17Thr Uncertain significance Single submitter
- SND1 p.Pro427Leu Uncertain significance Single submitter
- SND1 p.Pro500Arg Uncertain significance Single submitter
- SND1 p.Pro576Leu Uncertain significance Single submitter
- SND1 p.Pro723Leu Uncertain significance Single submitter
- SND1 p.Ser170Ala Uncertain significance Single submitter
- SND1 p.Ser3Phe Uncertain significance Single submitter
- SND1 p.Ser538Cys Uncertain significance Single submitter
- SND1 p.Ser600Asn Uncertain significance Single submitter
- SND1 p.Ser7Asn Uncertain significance Single submitter
- SND1 p.Ser909Gly Uncertain significance Single submitter
- SND1 p.Thr18Asn Uncertain significance Single submitter
- SND1 p.Thr220Ile Uncertain significance Single submitter
- SND1 p.Thr367Ala Uncertain significance Single submitter
- SND1 p.Thr418Met Uncertain significance Single submitter
- SND1 p.Thr811Met Uncertain significance Single submitter
- SND1 p.Val303Ile Uncertain significance Single submitter
- SND1 p.Val620Leu Uncertain significance Single submitter
- SND1 p.Val623Leu Uncertain significance Single submitter
- SND1 p.Val669Met Uncertain significance Single submitter
- SND1 p.Val698Met Uncertain significance Single submitter
- SND1 p.Val741Ile Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- SND1 p.Ala63Thr Uncertain significance Single submitter
- SND1 p.Arg148Gln Uncertain significance Single submitter
- SND1 p.Arg306Trp Uncertain significance Single submitter
- SND1 p.Arg731His Uncertain significance Single submitter
- SND1 p.Arg776Cys Uncertain significance Single submitter
- SND1 p.Arg787Trp Uncertain significance Single submitter
- SND1 p.Arg910Cys Uncertain significance Single submitter
- SND1 p.Asn283Ser Uncertain significance Single submitter
- SND1 p.Asp340His Uncertain significance Single submitter
- SND1 p.Asp477Glu Uncertain significance Single submitter
- SND1 p.Gln516Glu Uncertain significance Single submitter
- SND1 p.Glu234Gly Uncertain significance Single submitter
- SND1 p.Ile301Ser Uncertain significance Single submitter
- SND1 p.Ile373Met Uncertain significance Single submitter
- SND1 p.Ile99Met Uncertain significance Single submitter
- SND1 p.Leu114Phe Uncertain significance Single submitter
- SND1 p.Leu479Met Uncertain significance Single submitter
- SND1 p.Lys653Met Uncertain significance Single submitter
- SND1 p.Met222Ile Uncertain significance Single submitter
- SND1 p.Pro104Leu Uncertain significance Single submitter
- SND1 p.Pro722Leu Uncertain significance Single submitter
- SND1 p.Ser362Pro Uncertain significance Single submitter
- SND1 p.Ser645Cys Uncertain significance Single submitter
- SND1 p.Thr552Ser Uncertain significance Single submitter
- SND1 p.Thr98Ala Uncertain significance Single submitter
- SND1 p.Thr98Met Uncertain significance Single submitter
- SND1 p.Trp610Ser Uncertain significance Single submitter
- SND1 p.Tyr465His Uncertain significance Single submitter
- SND1 p.Tyr639Cys Uncertain significance Single submitter
- SND1 p.Tyr895His Uncertain significance Single submitter
- SND1 p.Val357Ala Uncertain significance Single submitter
- SND1 p.Val534Ile Uncertain significance Single submitter
- SND1 p.Val666Met Uncertain significance Single submitter
-
SND1 p.Arg40His
Uncertain significance
No assertion criteria
teratoma
-
SND1 p.Arg565Gln
Uncertain significance
No assertion criteria
SND1-related disorder
-
SND1 p.Glu624Ala
Likely benign
No assertion criteria
long QT syndrome
-
SND1 p.Ile33Phe
Uncertain significance
No assertion criteria
SND1-related disorder
All SND1 variants
Benign 6
- p.Gln516= Multiple submitters
- p.Gly307= Multiple submitters
- c.429-4C>T Single submitter
- p.Ala5_Ser11dup Single submitter
- p.Asp614= Single submitter
- p.Val531= Single submitter
Likely benign 14
- p.Ala5= Multiple submitters
- c.79-4G>A Single submitter
- p.Ala634= Single submitter
- p.Asp204= Single submitter
- p.Gly615Ser Single submitter
- p.His625= Single submitter
- p.Ile34= Single submitter
- p.Lys641= Single submitter
- p.Pro43= Single submitter
- p.Pro684= Single submitter
- p.Thr98= Single submitter
- p.Val499= Single submitter
- p.Glu286= No assertion criteria SND1-related disorder
- p.Glu624Ala No assertion criteria long QT syndrome ⚠
Uncertain significance 99
- p.Lys491Arg Multiple submitters ⚠
- p.Ala15Gly Single submitter ⚠
- p.Ala248fs Single submitter
- p.Ala308Thr Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Ala650Thr Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala835Val Single submitter ⚠
- p.Ala885Val Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg407Gln Single submitter ⚠
- p.Arg503His Single submitter ⚠
- p.Arg523Gln Single submitter ⚠
- p.Arg523Trp Single submitter ⚠
- p.Arg55Cys Single submitter ⚠
- p.Arg731His Single submitter ⚠
- p.Arg749Gln Single submitter ⚠
- p.Arg776Cys Single submitter ⚠
- p.Arg776His Single submitter ⚠
- p.Arg787Gln Single submitter ⚠
- p.Arg787Trp Single submitter ⚠
- p.Arg866His Single submitter hypospadias ⚠
- p.Arg910Cys Single submitter ⚠
- p.Arg910His Single submitter ⚠
- p.Asn143His Single submitter ⚠
- p.Asn283Ser Single submitter ⚠
- p.Asp328Asn Single submitter ⚠
- p.Asp340Asn Single submitter ⚠
- p.Asp340His Single submitter ⚠
- p.Asp477Glu Single submitter ⚠
- p.Cys152Arg Single submitter ⚠
- p.Cys152Gly Single submitter ⚠
- p.Gln516Glu Single submitter ⚠
- p.Gln825Arg Single submitter ⚠
- p.Glu234Gly Single submitter ⚠
- p.Glu579Lys Single submitter ⚠
- p.Glu795Gln Single submitter ⚠
- p.Gly169Asp Single submitter ⚠
- p.Gly380Trp Single submitter
- p.Gly849Asp Single submitter ⚠
- p.Gly854Asp Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile301Ser Single submitter ⚠
- p.Ile373Met Single submitter ⚠
- p.Ile690Val Single submitter ⚠
- p.Ile99Met Single submitter ⚠
- p.Leu114Ile Single submitter ⚠
- p.Leu114Phe Single submitter ⚠
- p.Leu360Gln Single submitter ⚠
- p.Leu479Met Single submitter ⚠
- p.Leu890Arg Single submitter ⚠
- p.Lys653Met Single submitter ⚠
- p.Met139Thr Single submitter ⚠
- p.Met222Ile Single submitter ⚠
- p.Met399Val Single submitter
- p.Phe251Tyr Single submitter
- p.Pro104Leu Single submitter ⚠
- p.Pro17Thr Single submitter ⚠
- p.Pro427Leu Single submitter ⚠
- p.Pro500Arg Single submitter ⚠
- p.Pro576Leu Single submitter ⚠
- p.Pro722Leu Single submitter ⚠
- p.Pro723Leu Single submitter ⚠
- p.Ser170Ala Single submitter ⚠
- p.Ser362Pro Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser538Cys Single submitter ⚠
- p.Ser600Asn Single submitter ⚠
- p.Ser645Cys Single submitter ⚠
- p.Ser7Asn Single submitter ⚠
- p.Ser909Gly Single submitter ⚠
- p.Thr18Asn Single submitter ⚠
- p.Thr220Ile Single submitter ⚠
- p.Thr367Ala Single submitter ⚠
- p.Thr418Met Single submitter ⚠
- p.Thr552Ser Single submitter ⚠
- p.Thr811Met Single submitter ⚠
- p.Thr98Ala Single submitter ⚠
- p.Thr98Met Single submitter ⚠
- p.Trp326Ter Single submitter
- p.Trp610Ser Single submitter ⚠
- p.Tyr465His Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Tyr895His Single submitter ⚠
- p.Val303Ile Single submitter ⚠
- p.Val357Ala Single submitter ⚠
- p.Val534Ile Single submitter ⚠
- p.Val620Leu Single submitter ⚠
- p.Val623Leu Single submitter ⚠
- p.Val666Met Single submitter ⚠
- p.Val669Met Single submitter ⚠
- p.Val698Met Single submitter ⚠
- p.Val741Ile Single submitter ⚠
- p.Arg40His No assertion criteria teratoma ⚠
- p.Arg565Gln No assertion criteria SND1-related disorder ⚠
- p.Ile33Phe No assertion criteria SND1-related disorder ⚠