TRPM5 — 271 ClinVar variants

All ClinVar germline TRPM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

2 Conflicting · 7 Benign · 2 Benign/Likely benign · 24 Likely benign · 236 Uncertain significance

Full TRPM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 220

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 2

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

Predictors lean, ClinVar uncertain 172

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 172

Predictors split 46

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

All TRPM5 variants

Conflicting classifications of pathogenicity 2

p.Gly1127Asp Single submitter ⚠
p.His311Gln Single submitter ⚠

Benign 7

p.Ala574= Multiple submitters
p.Cys227= Multiple submitters
p.Gly1136Ser Multiple submitters
p.Thr218= Multiple submitters
p.Thr616= Multiple submitters
p.Arg424His Single submitter
p.Asn402= Single submitter

Benign/Likely benign 2

p.Pro455= Multiple submitters
p.Thr314= Multiple submitters

Likely benign 24

p.Arg500Gln Multiple submitters
p.Ala243= Single submitter
p.Ala570Thr Single submitter
p.Ala643Thr Single submitter
p.Ala830Val Single submitter
p.Arg1130Trp Single submitter
p.Arg18Gly Single submitter
p.Gln475His Single submitter
p.Gly1128Ser Single submitter
p.Gly1152Ser Single submitter
p.His936= Single submitter
p.Leu266= Single submitter
p.Met840Ile Single submitter
p.Met991Thr Single submitter
p.Pro44Leu Single submitter
p.Pro7Ser Single submitter
p.Thr571Met Single submitter
p.Tyr576= Single submitter
p.Tyr998= Single submitter
p.Val1051Ile Single submitter
p.Val1142Ala Single submitter
p.Val116Ile Single submitter
p.Val385Met Single submitter
p.Val660Ile Single submitter

Uncertain significance 236

p.Ala1009Val Single submitter ⚠
p.Ala1032Asp Single submitter ⚠
p.Ala1120Val Single submitter ⚠
p.Ala1143Pro Single submitter ⚠
p.Ala260Thr Single submitter ⚠
p.Ala333Thr Single submitter ⚠
p.Ala333Val Single submitter ⚠
p.Ala387Thr Single submitter
p.Ala407Gly Single submitter ⚠
p.Ala451Thr Single submitter ⚠
p.Ala477Thr Single submitter ⚠
p.Ala551Thr Single submitter
p.Ala574Glu Single submitter ⚠
p.Ala595Thr Single submitter
p.Ala597Thr Single submitter ⚠
p.Ala709Val Single submitter ⚠
p.Ala744Thr Single submitter ⚠
p.Ala893Val Single submitter
p.Ala96Asp Single submitter ⚠
p.Ala976Thr Single submitter ⚠
p.Ala989Thr Single submitter ⚠
p.Arg1007His Single submitter
p.Arg1025His Single submitter ⚠
p.Arg1025Leu Single submitter ⚠
p.Arg1026Gln Single submitter ⚠
p.Arg1069Gln Single submitter ⚠
p.Arg1079Gln Single submitter ⚠
p.Arg1079Leu Single submitter ⚠
p.Arg1079Trp Single submitter ⚠
p.Arg1101Cys Single submitter ⚠
p.Arg1101His Single submitter ⚠
p.Arg1130Gln Single submitter ⚠
p.Arg121His Single submitter ⚠
p.Arg133His Single submitter ⚠
p.Arg149Cys Single submitter ⚠
p.Arg149Gly Single submitter ⚠
p.Arg19Trp Single submitter ⚠
p.Arg201Trp Single submitter ⚠
p.Arg203Lys Single submitter ⚠
p.Arg242Gly Single submitter ⚠
p.Arg298Cys Single submitter ⚠
p.Arg37Gln Single submitter ⚠
p.Arg414Gln Single submitter ⚠
p.Arg42Gln Single submitter ⚠
p.Arg434Gln Single submitter ⚠
p.Arg434Trp Single submitter ⚠
p.Arg440Gln Single submitter ⚠
p.Arg440Trp Single submitter ⚠
p.Arg452Gln Single submitter ⚠
p.Arg452Trp Single submitter ⚠
p.Arg468Cys Single submitter ⚠
p.Arg468Leu Single submitter ⚠
p.Arg486Pro Single submitter ⚠
p.Arg486Trp Single submitter ⚠
p.Arg490His Single submitter ⚠
p.Arg492Ser Single submitter ⚠
p.Arg530Cys Single submitter ⚠
p.Arg530Leu Single submitter
p.Arg572Cys Single submitter ⚠
p.Arg594Cys Single submitter ⚠
p.Arg594His Single submitter ⚠
p.Arg604His Single submitter ⚠
p.Arg716Cys Single submitter ⚠
p.Arg723His Single submitter ⚠
p.Arg758Ser Single submitter ⚠
p.Arg784Trp Single submitter ⚠
p.Arg85Gln Single submitter ⚠
p.Arg85Pro Single submitter ⚠
p.Arg85Trp Single submitter ⚠
p.Arg868Cys Single submitter ⚠
p.Arg89Cys Single submitter ⚠
p.Arg89Leu Single submitter ⚠
p.Arg8His Single submitter ⚠
p.Arg908Trp Single submitter ⚠
p.Arg930His Single submitter ⚠
p.Asn231Thr Single submitter ⚠
p.Asn231Tyr Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn370Ser Single submitter ⚠
p.Asp1121His Single submitter ⚠
p.Asp1151His Single submitter ⚠
p.Asp1164Gly Single submitter ⚠
p.Asp157Gly Single submitter ⚠
p.Asp195Asn Single submitter ⚠
p.Asp233Glu Single submitter ⚠
p.Asp261Asn Single submitter ⚠
p.Asp379Gly Single submitter
p.Asp401Asn Single submitter ⚠
p.Asp405Glu Single submitter ⚠
p.Asp408Asn Single submitter ⚠
p.Asp430Asn Single submitter ⚠
p.Asp682Gly Single submitter ⚠
p.Asp687Glu Single submitter ⚠
p.Asp792His Single submitter ⚠
p.Asp990His Single submitter ⚠
p.Cys611Arg Single submitter ⚠
p.Gln170His Single submitter ⚠
p.Gln320Pro Single submitter ⚠
p.Gln436Glu Single submitter ⚠
p.Gln762Arg Single submitter ⚠
p.Glu1006Gln Single submitter ⚠
p.Glu1074Ala Single submitter ⚠
p.Glu1074Asp Single submitter ⚠
p.Glu1074Lys Single submitter ⚠
p.Glu1137Lys Single submitter ⚠
p.Glu245Lys Single submitter ⚠
p.Glu279Lys Single submitter ⚠
p.Glu27Gly Single submitter ⚠
p.Glu324Lys Single submitter ⚠
p.Glu394Lys Single submitter ⚠
p.Glu417Gly Single submitter ⚠
p.Glu465Lys Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu566Lys Single submitter ⚠
p.Glu573Lys Single submitter ⚠
p.Glu592Ala Single submitter ⚠
p.Glu617Lys Single submitter ⚠
p.Glu768Lys Single submitter ⚠
p.Gly1093Arg Single submitter ⚠
p.Gly1094Asp Single submitter ⚠
p.Gly111Ser Single submitter
p.Gly111Val Single submitter ⚠
p.Gly1149Ala Single submitter ⚠
p.Gly1149Asp Single submitter ⚠
p.Gly1157Arg Single submitter ⚠
p.Gly143Ser Single submitter ⚠
p.Gly194Asp Single submitter ⚠
p.Gly194Val Single submitter ⚠
p.Gly214Val Single submitter ⚠
p.Gly216Arg Single submitter ⚠
p.Gly219Arg Single submitter ⚠
p.Gly258Asp Single submitter
p.Gly413Arg Single submitter ⚠
p.Gly413Glu Single submitter ⚠
p.Gly445Ser Single submitter ⚠
p.Gly447Asp Single submitter ⚠
p.Gly457Glu Single submitter ⚠
p.Gly46Arg Single submitter ⚠
p.Gly485Ser Single submitter ⚠
p.Gly488Ala Single submitter ⚠
p.Gly544Val Single submitter
p.Gly628Ser Single submitter ⚠
p.Gly821Val Single submitter ⚠
p.His115Asn Single submitter ⚠
p.His147Tyr Single submitter ⚠
p.His161Pro Single submitter ⚠
p.His271Gln Single submitter ⚠
p.His341Asp Single submitter ⚠
p.His560Leu Single submitter ⚠
p.Ile1109Asn Single submitter ⚠
p.Ile208Met Single submitter
p.Ile221Val Single submitter ⚠
p.Ile252Thr Single submitter ⚠
p.Ile296Val Single submitter ⚠
p.Ile863Val Single submitter
p.Ile926Thr Single submitter ⚠
p.Leu1017Pro Single submitter ⚠
p.Leu1123Gln Single submitter ⚠
p.Leu443Pro Single submitter ⚠
p.Leu443Val Single submitter ⚠
p.Leu523Pro Single submitter ⚠
p.Leu650Val Single submitter ⚠
p.Leu67Pro Single submitter ⚠
p.Leu801Pro Single submitter ⚠
p.Leu838Pro Single submitter ⚠
p.Leu877Val Single submitter ⚠
p.Leu949Phe Single submitter ⚠
p.Lys1103Asn Single submitter ⚠
p.Lys206Met Single submitter ⚠
p.Lys301Gln Single submitter ⚠
p.Lys556Gln Single submitter ⚠
p.Lys621Arg Single submitter ⚠
p.Lys690Glu Single submitter ⚠
p.Lys726Glu Single submitter ⚠
p.Met533Ile Single submitter ⚠
p.Met641Val Single submitter ⚠
p.Met80Thr Single submitter ⚠
p.Met812Val Single submitter ⚠
p.Met991Arg Single submitter ⚠
p.Met991Val Single submitter ⚠
p.Phe286Ile Single submitter ⚠
p.Phe799Leu Single submitter
p.Phe874Val Single submitter
p.Phe878Leu Single submitter ⚠
p.Pro1012Leu Single submitter ⚠
p.Pro159His Single submitter ⚠
p.Pro191Leu Single submitter ⚠
p.Pro249Leu Single submitter ⚠
p.Pro63Leu Single submitter ⚠
p.Pro913Leu Single submitter ⚠
p.Pro944Ser Single submitter ⚠
p.Pro947Leu Single submitter ⚠
p.Ser106Gly Single submitter ⚠
p.Ser1107Leu Single submitter ⚠
p.Ser1113Leu Single submitter ⚠
p.Ser1163Leu Single submitter ⚠
p.Ser256Trp Single submitter ⚠
p.Ser33Cys Single submitter ⚠
p.Ser377Pro Single submitter ⚠
p.Ser591Ile Single submitter ⚠
p.Ser70Ala Single submitter ⚠
p.Ser765Leu Single submitter ⚠
p.Ser881Arg Single submitter ⚠
p.Ser881Ile Single submitter ⚠
p.Ser934Pro Single submitter ⚠
p.Thr1023Met Single submitter ⚠
p.Thr105Ser Single submitter ⚠
p.Thr1081Asn Single submitter ⚠
p.Thr1165Asn Single submitter ⚠
p.Thr411Met Single submitter
p.Thr448Ser Single submitter ⚠
p.Thr535Ser Single submitter ⚠
p.Thr616Ala Single submitter ⚠
p.Thr722Lys Single submitter ⚠
p.Thr777Met Single submitter
p.Thr846Met Single submitter ⚠
p.Trp299Cys Single submitter ⚠
p.Trp358Cys Single submitter ⚠
p.Tyr661Cys Single submitter ⚠
p.Tyr772Cys Single submitter ⚠
p.Tyr802Cys Single submitter ⚠
p.Val1116Met Single submitter ⚠
p.Val120Leu Single submitter
p.Val145Ile Single submitter ⚠
p.Val186Met Single submitter ⚠
p.Val297Leu Single submitter ⚠
p.Val422Met Single submitter ⚠
p.Val4Ile Single submitter ⚠
p.Val51Met Single submitter ⚠
p.Val526Met Single submitter ⚠
p.Val629Ile Single submitter ⚠
p.Val732Met Single submitter ⚠
p.Val739Met Single submitter ⚠
p.Val866Ala Single submitter ⚠
p.Val882Leu Single submitter
p.Val965Phe Single submitter ⚠