GRM5 — 168 ClinVar variants

All ClinVar germline GRM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

1 Conflicting · 15 Benign · 3 Benign/Likely benign · 25 Likely benign · 124 Uncertain significance

Full GRM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GRM5 p.His1043Pro Conflicting Single submitter

Predictors lean, ClinVar uncertain 99

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

The independent predictors disagree with each other — read with care.

All GRM5 variants

Conflicting classifications of pathogenicity 1

p.His1043Pro Single submitter ⚠

Benign 15

p.Asn402= Multiple submitters
p.Gln63= Multiple submitters
p.Gly926= Multiple submitters
p.Gly978Ser Multiple submitters
p.Lys396= Multiple submitters
p.Thr219= Multiple submitters
p.Thr453Met Multiple submitters
p.Val709= Multiple submitters
p.Val740= Multiple submitters
c.912-7C>G Single submitter
p.Ala29= Single submitter
p.Gly870= Single submitter
p.Leu630= Single submitter
p.Thr1124= Single submitter
p.Tyr422= Single submitter

Benign/Likely benign 3

c.1394+8_1394+9del Multiple submitters
p.Lys678= Multiple submitters
p.Thr977= Multiple submitters

Likely benign 25

c.1691-4G>T Multiple submitters
p.Arg925= Multiple submitters
p.Ala1146Ser Single submitter
p.Ala995Val Single submitter autism spectrum disorder
p.Asn374= Single submitter
p.Gln931= Single submitter
p.Gly973= Single submitter
p.Gly978= Single submitter
p.Gly986= Single submitter
p.Leu1118= Single submitter
p.Leu562= Single submitter
p.Pro820= Single submitter
p.Pro990= Single submitter
p.Ser1041= Single submitter
p.Ser1050= Single submitter
p.Ser805= Single submitter
p.Ser835= Single submitter
p.Thr1082= Single submitter
p.Thr1111= Single submitter
p.Thr282= Single submitter
p.Thr682= Single submitter
p.Thr780= Single submitter
p.Val203= Single submitter
p.Val28= Single submitter
p.Val499= Single submitter

Uncertain significance 124

p.Ala1048Glu Single submitter ⚠
p.Ala1083Thr Single submitter ⚠
p.Ala1084Val Single submitter ⚠
p.Ala1091Ser Single submitter ⚠
p.Ala1130Thr Single submitter ⚠
p.Ala1130Val Single submitter ⚠
p.Ala1133Ser Single submitter ⚠
p.Ala1136Ser Single submitter ⚠
p.Ala1139Val Single submitter ⚠
p.Ala1140Thr Single submitter ⚠
p.Ala1152Val Single submitter ⚠
p.Ala230Gly Single submitter ⚠
p.Ala243Val Single submitter ⚠
p.Ala271Val Single submitter ⚠
p.Ala275Val Single submitter ⚠
p.Ala963Pro Single submitter ⚠
p.Ala965Ser Single submitter ⚠
p.Ala967Thr Single submitter ⚠
p.Ala980Glu Single submitter ⚠
p.Ala980Thr Single submitter ⚠
p.Ala980Val Single submitter ⚠
p.Arg1028Cys Single submitter ⚠
p.Arg1067His Single submitter ⚠
p.Arg1141Gln Single submitter ⚠
p.Arg272Gln Single submitter ⚠
p.Arg292His Single submitter ⚠
p.Arg366Gln Single submitter ⚠
p.Arg574Gln Single submitter ⚠
p.Arg834Cys Single submitter ⚠
p.Arg844His Single submitter ⚠
p.Arg858Ser Single submitter
p.Arg925Gln Single submitter ⚠
p.Arg925Trp Single submitter ⚠
p.Asn1071Asp Single submitter ⚠
p.Asn166Asp Single submitter ⚠
p.Asn505Tyr Single submitter ⚠
p.Asn938Ser Single submitter ⚠
p.Asp1037Asn Single submitter ⚠
p.Asp1198Gly Single submitter ⚠
p.Asp204Gly Single submitter ⚠
p.Asp560Asn Single submitter ⚠
p.Asp849Glu Single submitter ⚠
p.Cys1190Tyr Single submitter ⚠
p.Cys57Tyr Single submitter ⚠
p.Gln1134Arg Single submitter ⚠
p.Gln364His Single submitter ⚠
p.Glu111Gly Single submitter ⚠
p.Glu1122Lys Single submitter ⚠
p.Glu1149Ala Single submitter ⚠
p.Glu1159Asp Single submitter ⚠
p.Glu368Gly Single submitter ⚠
p.Glu546Asp Single submitter ⚠
p.Gly1055Asp Single submitter ⚠
p.Gly1088Ser Single submitter ⚠
p.Gly1126Cys Single submitter ⚠
p.Gly1126Ser Single submitter ⚠
p.Gly253Glu Single submitter ⚠
p.Gly294Asp Single submitter ⚠
p.Gly369Ala Single submitter ⚠
p.Gly421Arg Single submitter ⚠
p.Gly628Ser Single submitter ⚠
p.Gly848Arg Single submitter ⚠
p.Gly973Ser Single submitter ⚠
p.His361Arg Single submitter ⚠
p.His391Tyr Single submitter ⚠
p.Ile1022Val Single submitter ⚠
p.Ile110Met Single submitter ⚠
p.Ile1202Val Single submitter ⚠
p.Ile147Thr Single submitter ⚠
p.Ile147Val Single submitter ⚠
p.Ile35Met Single submitter ⚠
p.Ile432Thr Single submitter ⚠
p.Ile699Leu Single submitter ⚠
p.Ile719Val Single submitter ⚠
p.Leu301Phe Single submitter
p.Leu425His Single submitter ⚠
p.Leu630Ile Single submitter ⚠
p.Leu73Met Single submitter ⚠
p.Leu91Met Single submitter ⚠
p.Lys262Glu Single submitter ⚠
p.Lys343Asn Single submitter ⚠
p.Lys503Thr Single submitter ⚠
p.Lys550Gln Single submitter ⚠
p.Lys638Glu Single submitter ⚠
p.Met290Val Single submitter ⚠
p.Met416Ile Single submitter ⚠
p.Met429Ile Single submitter ⚠
p.Met469Thr Single submitter ⚠
p.Met474Ile Single submitter ⚠
p.Met899Thr Single submitter ⚠
p.Met899Val Single submitter ⚠
p.Phe1010Leu Single submitter ⚠
p.Phe818Ser Single submitter ⚠
p.Pro1011Gln Single submitter ⚠
p.Pro1040Leu Single submitter ⚠
p.Pro1085Ser Single submitter ⚠
p.Pro1148Thr Single submitter ⚠
p.Ser1052Pro Single submitter ⚠
p.Ser1053Leu Single submitter ⚠
p.Ser1086Arg Single submitter ⚠
p.Ser1167Phe Single submitter ⚠
p.Ser1175Leu Single submitter ⚠
p.Ser1210Leu Single submitter ⚠
p.Ser250Arg Single submitter ⚠
p.Ser375Asn Single submitter ⚠
p.Ser809Gly Single submitter ⚠
p.Ser859Tyr Single submitter ⚠
p.Ser861Asn Single submitter
p.Ser888Leu Single submitter ⚠
p.Ser924Thr Single submitter ⚠
p.Thr1107Ala Single submitter ⚠
p.Thr1108Ser Single submitter ⚠
p.Trp354Ter Single submitter
p.Tyr478Phe Single submitter ⚠
p.Val144Ala Single submitter ⚠
p.Val191Phe Single submitter ⚠
p.Val217Met Single submitter ⚠
p.Val27Met Single submitter ⚠
p.Val322Ala Single submitter ⚠
p.Val484Ile Single submitter ⚠
p.Val599Gly Single submitter ⚠
p.Val709Leu Single submitter ⚠
p.Val819Leu Single submitter ⚠
p.Ile454Thr No assertion criteria ⚠