SARDH — 223 ClinVar variants
All ClinVar germline SARDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 20 Benign · 1 Benign/Likely benign · 30 Likely benign · 170 Uncertain significance
Full SARDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 168
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 116
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SARDH p.Gly526Ala
Uncertain significance
Multiple submitters
sarcosinemia
- SARDH p.Ala253Thr Uncertain significance Single submitter
- SARDH p.Ala294Asp Uncertain significance Single submitter
- SARDH p.Ala31Pro Uncertain significance Single submitter
- SARDH p.Ala31Thr Uncertain significance Single submitter
- SARDH p.Ala537Gly Uncertain significance Single submitter
- SARDH p.Ala537Pro Uncertain significance Single submitter
- SARDH p.Ala537Thr Uncertain significance Single submitter
- SARDH p.Ala596Thr Uncertain significance Single submitter
- SARDH p.Ala632Ser Uncertain significance Single submitter
- SARDH p.Ala647Pro Uncertain significance Single submitter
- SARDH p.Ala689Thr Uncertain significance Single submitter
- SARDH p.Ala700Thr Uncertain significance Single submitter
- SARDH p.Ala742Val Uncertain significance Single submitter
- SARDH p.Ala812Val Uncertain significance Single submitter
- SARDH p.Ala86Thr Uncertain significance Single submitter
- SARDH p.Arg100Gln Uncertain significance Single submitter
- SARDH p.Arg117Trp Uncertain significance Single submitter
- SARDH p.Arg131Gly Uncertain significance Single submitter
- SARDH p.Arg159Gln Uncertain significance Single submitter
- SARDH p.Arg161Cys Uncertain significance Single submitter
- SARDH p.Arg241His Uncertain significance Single submitter
- SARDH p.Arg250Gln Uncertain significance Single submitter
- SARDH p.Arg320Cys Uncertain significance Single submitter
- SARDH p.Arg320His Uncertain significance Single submitter
- SARDH p.Arg432His Uncertain significance Single submitter
- SARDH p.Arg444Cys Uncertain significance Single submitter
- SARDH p.Arg444His Uncertain significance Single submitter
- SARDH p.Arg44Gln Uncertain significance Single submitter
- SARDH p.Arg454His Uncertain significance Single submitter
-
SARDH p.Arg481His
Uncertain significance
Single submitter
sarcosinemia
- SARDH p.Arg507Pro Uncertain significance Single submitter
- SARDH p.Arg539Ser Uncertain significance Single submitter
- SARDH p.Arg600Gln Uncertain significance Single submitter
- SARDH p.Arg6Gln Uncertain significance Single submitter
- SARDH p.Arg766His Uncertain significance Single submitter
- SARDH p.Arg823Gln Uncertain significance Single submitter
- SARDH p.Arg853Trp Uncertain significance Single submitter
- SARDH p.Asn195Lys Uncertain significance Single submitter
- SARDH p.Asn910Lys Uncertain significance Single submitter
- SARDH p.Asn911Ser Uncertain significance Single submitter
- SARDH p.Asp198His Uncertain significance Single submitter
- SARDH p.Asp597Asn Uncertain significance Single submitter
- SARDH p.Asp679Asn Uncertain significance Single submitter
- SARDH p.Asp787Glu Uncertain significance Single submitter
- SARDH p.Asp872Glu Uncertain significance Single submitter
- SARDH p.Asp908Asn Uncertain significance Single submitter
- SARDH p.Gln57Arg Uncertain significance Single submitter
- SARDH p.Gln631Arg Uncertain significance Single submitter
- SARDH p.Gln815Arg Uncertain significance Single submitter
- SARDH p.Gln900Glu Uncertain significance Single submitter
- SARDH p.Glu299Asp Uncertain significance Single submitter
- SARDH p.Glu37Lys Uncertain significance Single submitter
- SARDH p.Glu399Asp Uncertain significance Single submitter
- SARDH p.Glu521Gln Uncertain significance Single submitter
- SARDH p.Glu521Gly Uncertain significance Single submitter
- SARDH p.Glu521Lys Uncertain significance Single submitter
- SARDH p.Glu534Lys Uncertain significance Single submitter
- SARDH p.Glu560Gly Uncertain significance Single submitter
- SARDH p.Glu618Lys Uncertain significance Single submitter
- SARDH p.Glu774Gly Uncertain significance Single submitter
- SARDH p.Gly104Arg Uncertain significance Single submitter
- SARDH p.Gly152Ala Uncertain significance Single submitter
- SARDH p.Gly209Ser Uncertain significance Single submitter
- SARDH p.Gly260Asp Uncertain significance Single submitter
- SARDH p.Gly363Val Uncertain significance Single submitter
- SARDH p.Gly382Ser Uncertain significance Single submitter
- SARDH p.Gly529Arg Uncertain significance Single submitter
- SARDH p.Gly566Arg Uncertain significance Single submitter
- SARDH p.Gly73Asp Uncertain significance Single submitter
- SARDH p.Gly78Val Uncertain significance Single submitter
- SARDH p.Gly876Glu Uncertain significance Single submitter
- SARDH p.His14Arg Uncertain significance Single submitter
- SARDH p.His293Gln Uncertain significance Single submitter
- SARDH p.His426Arg Uncertain significance Single submitter
- SARDH p.His452Gln Uncertain significance Single submitter
- SARDH p.His712Asn Uncertain significance Single submitter
- SARDH p.Ile861Met Uncertain significance Single submitter
- SARDH p.Leu393Arg Uncertain significance Single submitter
- SARDH p.Met307Val Uncertain significance Single submitter
- SARDH p.Met836Ile Uncertain significance Single submitter
- SARDH p.Phe576Leu Uncertain significance Single submitter
- SARDH p.Pro25Ser Uncertain significance Single submitter
- SARDH p.Pro287Ala Uncertain significance Single submitter
- SARDH p.Pro433Leu Uncertain significance Single submitter
- SARDH p.Pro477Leu Uncertain significance Single submitter
- SARDH p.Pro477Thr Uncertain significance Single submitter
- SARDH p.Pro508Leu Uncertain significance Single submitter
- SARDH p.Pro513Ala Uncertain significance Single submitter
- SARDH p.Pro516Ser Uncertain significance Single submitter
- SARDH p.Pro551Gln Uncertain significance Single submitter
- SARDH p.Pro804Gln Uncertain significance Single submitter
- SARDH p.Pro906Leu Uncertain significance Single submitter
- SARDH p.Ser103Phe Uncertain significance Single submitter
- SARDH p.Ser378Phe Uncertain significance Single submitter
- SARDH p.Ser448Leu Uncertain significance Single submitter
- SARDH p.Ser684Arg Uncertain significance Single submitter
- SARDH p.Ser728Pro Uncertain significance Single submitter
- SARDH p.Ser789Arg Uncertain significance Single submitter
- SARDH p.Ser874Gly Uncertain significance Single submitter
- SARDH p.Ser905Leu Uncertain significance Single submitter
- SARDH p.Thr145Ala Uncertain significance Single submitter
- SARDH p.Thr298Ala Uncertain significance Single submitter
- SARDH p.Thr358Ile Uncertain significance Single submitter
- SARDH p.Thr450Met Uncertain significance Single submitter
- SARDH p.Val289Gly Uncertain significance Single submitter
- SARDH p.Val296Ile Uncertain significance Single submitter
- SARDH p.Val297Ile Uncertain significance Single submitter
- SARDH p.Val471Ile Uncertain significance Single submitter
- SARDH p.Val519Ile Uncertain significance Single submitter
- SARDH p.Val652Met Uncertain significance Single submitter
- SARDH p.Val663Met Uncertain significance Single submitter
- SARDH p.Val69Met Uncertain significance Single submitter
- SARDH p.Val826Ala Uncertain significance Single submitter
- SARDH p.Val895Leu Uncertain significance Single submitter
- SARDH p.Val94Ala Uncertain significance Single submitter
Predictors split 52
The independent predictors disagree with each other — read with care.
- SARDH p.Glu490Lys Benign Multiple submitters
-
SARDH p.Thr145Met
Uncertain significance
Multiple submitters
sarcosinemia
- SARDH p.Ala223Thr Uncertain significance Single submitter
- SARDH p.Ala568Thr Uncertain significance Single submitter
- SARDH p.Ala569Thr Uncertain significance Single submitter
- SARDH p.Ala638Thr Uncertain significance Single submitter
- SARDH p.Ala717Thr Uncertain significance Single submitter
- SARDH p.Ala754Thr Uncertain significance Single submitter
- SARDH p.Ala754Val Uncertain significance Single submitter
- SARDH p.Ala763Thr Uncertain significance Single submitter
-
SARDH p.Ala793Val
Uncertain significance
Single submitter
sarcosinemia
- SARDH p.Ala7Asp Uncertain significance Single submitter
- SARDH p.Ala866Thr Uncertain significance Single submitter
- SARDH p.Arg100Trp Uncertain significance Single submitter
- SARDH p.Arg159Trp Uncertain significance Single submitter
- SARDH p.Arg251Trp Uncertain significance Single submitter
- SARDH p.Arg300Cys Uncertain significance Single submitter
- SARDH p.Arg300His Uncertain significance Single submitter
- SARDH p.Arg454Cys Uncertain significance Single submitter
- SARDH p.Arg459Gln Uncertain significance Single submitter
- SARDH p.Arg502Gln Uncertain significance Single submitter
- SARDH p.Arg723Gln Uncertain significance Single submitter
- SARDH p.Arg766Cys Uncertain significance Single submitter
- SARDH p.Arg778Trp Uncertain significance Single submitter
- SARDH p.Arg817Trp Uncertain significance Single submitter
- SARDH p.Arg822Cys Uncertain significance Single submitter
- SARDH p.Arg823Trp Uncertain significance Single submitter
- SARDH p.Arg824His Uncertain significance Single submitter
- SARDH p.Arg9His Uncertain significance Single submitter
- SARDH p.Asn410Ser Uncertain significance Single submitter
- SARDH p.Gly283Arg Uncertain significance Single submitter
- SARDH p.Gly759Ser Uncertain significance Single submitter
- SARDH p.Gly846Ser Uncertain significance Single submitter
- SARDH p.Gly875Ser Uncertain significance Single submitter
- SARDH p.His902Arg Uncertain significance Single submitter
- SARDH p.Leu4Met Uncertain significance Single submitter
- SARDH p.Leu542Arg Uncertain significance Single submitter
- SARDH p.Met573Val Uncertain significance Single submitter
- SARDH p.Phe357Ile Uncertain significance Single submitter
- SARDH p.Phe403Leu Uncertain significance Single submitter
- SARDH p.Phe445Tyr Uncertain significance Single submitter
- SARDH p.Phe837Cys Uncertain significance Single submitter
- SARDH p.Pro392Leu Uncertain significance Single submitter
- SARDH p.Pro398Ser Uncertain significance Single submitter
- SARDH p.Pro806Leu Uncertain significance Single submitter
- SARDH p.Ser316Ala Uncertain significance Single submitter
- SARDH p.Ser879Leu Uncertain significance Single submitter
- SARDH p.Thr379Met Uncertain significance Single submitter
- SARDH p.Thr608Ala Uncertain significance Single submitter
- SARDH p.Thr66Pro Uncertain significance Single submitter
- SARDH p.Tyr580Cys Uncertain significance Single submitter
- SARDH p.Val470Phe Uncertain significance Single submitter
All SARDH variants
Pathogenic 1
- p.Gly526fs Single submitter
Likely pathogenic 1
- p.Asp436fs Single submitter sarcosinemia
Benign 20
- c.1471-8C>T Multiple submitters
- p.Ala333Val Multiple submitters
- p.Ala568= Multiple submitters
- p.Ala782= Multiple submitters
- p.Ala819Thr Multiple submitters
- p.Asn158Ser Multiple submitters sarcosinemia
- p.Asp486= Multiple submitters
- p.Glu490Lys Multiple submitters ⚠
- p.His489= Multiple submitters
- p.Ser316= Multiple submitters
- p.Ser595= Multiple submitters
- p.Val181= Multiple submitters
- p.Val249= Multiple submitters
- p.Arg61Gln Single submitter
- p.Arg614His No assertion criteria SARDH-related disorder
- p.Gln50= No assertion criteria SARDH-related disorder
- p.Ile768= No assertion criteria SARDH-related disorder
- p.Met648Val No assertion criteria SARDH-related disorder
- p.Pro473= No assertion criteria SARDH-related disorder
- p.Val730= No assertion criteria SARDH-related disorder
Benign/Likely benign 1
- p.Pro433= Multiple submitters sarcosinemia
Likely benign 30
- p.Ala742= Multiple submitters
- p.Ala782Val Multiple submitters
- c.1329-6C>T Single submitter
- c.915+4221G>A Single submitter
- c.915+4350C>T Single submitter
- p.Ala174Val Single submitter
- p.Arg280Gln Single submitter
- p.Arg44Trp Single submitter
- p.Arg749Gln Single submitter
- p.Asn845= Single submitter
- p.Asp862Asn Single submitter
- p.Gly509= Single submitter
- p.His207Asn Single submitter
- p.His871Arg Single submitter
- p.Ile155Val Single submitter
- p.Phe247= Single submitter
- p.Thr189Ile Single submitter
- p.Tyr867= Single submitter
- p.Val296= Single submitter
- p.Val745Leu Single submitter
- c.814+7G>A No assertion criteria SARDH-related disorder
- c.815-5C>T No assertion criteria SARDH-related disorder
- p.Ala127= No assertion criteria SARDH-related disorder
- p.Ala866= No assertion criteria SARDH-related disorder
- p.Arg222= No assertion criteria SARDH-related disorder
- p.Ile683= No assertion criteria SARDH-related disorder
- p.Leu95= No assertion criteria SARDH-related disorder
- p.Met90Ile No assertion criteria SARDH-related disorder
- p.Thr141= No assertion criteria SARDH-related disorder
- p.Thr379= No assertion criteria SARDH-related disorder
Uncertain significance 170
- p.Gly526Ala Multiple submitters sarcosinemia ⚠
- p.Thr145Met Multiple submitters sarcosinemia ⚠
- p.Ala223Thr Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala294Asp Single submitter ⚠
- p.Ala315Asp Single submitter
- p.Ala31Pro Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala537Gly Single submitter ⚠
- p.Ala537Pro Single submitter ⚠
- p.Ala537Thr Single submitter ⚠
- p.Ala568Thr Single submitter ⚠
- p.Ala569Thr Single submitter ⚠
- p.Ala596Thr Single submitter ⚠
- p.Ala632Ser Single submitter ⚠
- p.Ala638Thr Single submitter ⚠
- p.Ala647Pro Single submitter ⚠
- p.Ala689Thr Single submitter ⚠
- p.Ala700Thr Single submitter ⚠
- p.Ala717Thr Single submitter ⚠
- p.Ala742Val Single submitter ⚠
- p.Ala754Thr Single submitter ⚠
- p.Ala754Val Single submitter ⚠
- p.Ala763Thr Single submitter ⚠
- p.Ala793Val Single submitter sarcosinemia ⚠
- p.Ala7Asp Single submitter ⚠
- p.Ala812Val Single submitter ⚠
- p.Ala866Thr Single submitter ⚠
- p.Ala86Thr Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg117Trp Single submitter ⚠
- p.Arg131Gly Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg250Gln Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg300His Single submitter ⚠
- p.Arg320Cys Single submitter ⚠
- p.Arg320His Single submitter ⚠
- p.Arg432His Single submitter ⚠
- p.Arg444Cys Single submitter ⚠
- p.Arg444His Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg454Cys Single submitter ⚠
- p.Arg454His Single submitter ⚠
- p.Arg459Gln Single submitter ⚠
- p.Arg481His Single submitter sarcosinemia ⚠
- p.Arg502Gln Single submitter ⚠
- p.Arg507Pro Single submitter ⚠
- p.Arg539Ser Single submitter ⚠
- p.Arg600Gln Single submitter ⚠
- p.Arg6Gln Single submitter ⚠
- p.Arg723Gln Single submitter ⚠
- p.Arg766Cys Single submitter ⚠
- p.Arg766His Single submitter ⚠
- p.Arg778Trp Single submitter ⚠
- p.Arg817Trp Single submitter ⚠
- p.Arg822Cys Single submitter ⚠
- p.Arg823Gln Single submitter ⚠
- p.Arg823Trp Single submitter ⚠
- p.Arg824His Single submitter ⚠
- p.Arg853Trp Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Asn195Lys Single submitter ⚠
- p.Asn410Ser Single submitter ⚠
- p.Asn910Lys Single submitter ⚠
- p.Asn911Ser Single submitter ⚠
- p.Asp198His Single submitter ⚠
- p.Asp597Asn Single submitter ⚠
- p.Asp679Asn Single submitter ⚠
- p.Asp787Glu Single submitter ⚠
- p.Asp872Glu Single submitter ⚠
- p.Asp908Asn Single submitter ⚠
- p.Gln57Arg Single submitter ⚠
- p.Gln631Arg Single submitter ⚠
- p.Gln815Arg Single submitter ⚠
- p.Gln900Glu Single submitter ⚠
- p.Glu122Asp Single submitter
- p.Glu299Asp Single submitter ⚠
- p.Glu37Lys Single submitter ⚠
- p.Glu399Asp Single submitter ⚠
- p.Glu521Gln Single submitter ⚠
- p.Glu521Gly Single submitter ⚠
- p.Glu521Lys Single submitter ⚠
- p.Glu534Lys Single submitter ⚠
- p.Glu560Gly Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Glu774Gly Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly152Ala Single submitter ⚠
- p.Gly209Ser Single submitter ⚠
- p.Gly260Asp Single submitter ⚠
- p.Gly283Arg Single submitter ⚠
- p.Gly363Val Single submitter ⚠
- p.Gly382Ser Single submitter ⚠
- p.Gly529Arg Single submitter ⚠
- p.Gly566Arg Single submitter ⚠
- p.Gly73Asp Single submitter ⚠
- p.Gly759Ser Single submitter ⚠
- p.Gly78Val Single submitter ⚠
- p.Gly846Ser Single submitter ⚠
- p.Gly875Ser Single submitter ⚠
- p.Gly876Glu Single submitter ⚠
- p.His14Arg Single submitter ⚠
- p.His293Gln Single submitter ⚠
- p.His426Arg Single submitter ⚠
- p.His452Gln Single submitter ⚠
- p.His712Asn Single submitter ⚠
- p.His902Arg Single submitter ⚠
- p.Ile861Met Single submitter ⚠
- p.Leu393Arg Single submitter ⚠
- p.Leu4Met Single submitter ⚠
- p.Leu542Arg Single submitter ⚠
- p.Met307Val Single submitter ⚠
- p.Met573Val Single submitter ⚠
- p.Met836Ile Single submitter ⚠
- p.Phe357Ile Single submitter ⚠
- p.Phe403Leu Single submitter ⚠
- p.Phe445Tyr Single submitter ⚠
- p.Phe576Leu Single submitter ⚠
- p.Phe837Cys Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro287Ala Single submitter ⚠
- p.Pro392Leu Single submitter ⚠
- p.Pro398Ser Single submitter ⚠
- p.Pro433Leu Single submitter ⚠
- p.Pro477Leu Single submitter ⚠
- p.Pro477Thr Single submitter ⚠
- p.Pro508Leu Single submitter ⚠
- p.Pro513Ala Single submitter ⚠
- p.Pro516Ser Single submitter ⚠
- p.Pro551Gln Single submitter ⚠
- p.Pro804Gln Single submitter ⚠
- p.Pro806Leu Single submitter ⚠
- p.Pro906Leu Single submitter ⚠
- p.Ser103Phe Single submitter ⚠
- p.Ser316Ala Single submitter ⚠
- p.Ser378Phe Single submitter ⚠
- p.Ser448Leu Single submitter ⚠
- p.Ser684Arg Single submitter ⚠
- p.Ser728Pro Single submitter ⚠
- p.Ser789Arg Single submitter ⚠
- p.Ser874Gly Single submitter ⚠
- p.Ser879Leu Single submitter ⚠
- p.Ser905Leu Single submitter ⚠
- p.Thr145Ala Single submitter ⚠
- p.Thr298Ala Single submitter ⚠
- p.Thr358Ile Single submitter ⚠
- p.Thr379Met Single submitter ⚠
- p.Thr450Met Single submitter ⚠
- p.Thr608Ala Single submitter ⚠
- p.Thr66Pro Single submitter ⚠
- p.Tyr546Asp Single submitter
- p.Tyr580Cys Single submitter ⚠
- p.Val289Gly Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Val297Ile Single submitter ⚠
- p.Val470Phe Single submitter ⚠
- p.Val471Ile Single submitter ⚠
- p.Val519Ile Single submitter ⚠
- p.Val652Met Single submitter ⚠
- p.Val663Met Single submitter ⚠
- p.Val69Met Single submitter ⚠
- p.Val826Ala Single submitter ⚠
- p.Val895Leu Single submitter ⚠
- p.Val94Ala Single submitter ⚠