TRPV1 — 157 ClinVar variants

All ClinVar germline TRPV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

1 Likely pathogenic · 1 Conflicting · 7 Benign · 16 Likely benign · 132 Uncertain significance

Full TRPV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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.

TRPV1 p.Val288Gly Conflicting Single submitter

Predictors lean, ClinVar uncertain 101

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

Predictors split 24

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

All TRPV1 variants

Likely pathogenic 1

p.Asn331Lys Single submitter

Conflicting classifications of pathogenicity 1

p.Val288Gly Single submitter ⚠

Benign 7

c.284+9G>A Multiple submitters
p.Pro60= Multiple submitters
p.Thr219Ala Multiple submitters
p.Thr505Ala Multiple submitters
p.Thr612= Multiple submitters
p.Pro619= Single submitter
c.-34+7395T>C No assertion criteria nephropathic cystinosis

Likely benign 16

p.Thr612Met Multiple submitters
c.2347+8G>A Single submitter
p.Ala103Thr Single submitter
p.Ala296= Single submitter
p.Arg474= Single submitter
p.Asn192= Single submitter
p.Asp625Asn Single submitter
p.Ile208= Single submitter
p.Ile82Val Single submitter
p.Leu25Pro Single submitter
p.Phe589Leu Single submitter
p.Pro87= Single submitter
p.Thr20Ala Single submitter
p.Thr299= Single submitter
p.Val458Met Single submitter
p.Val770Ile Single submitter

Uncertain significance 132

p.Ala104Ser Single submitter ⚠
p.Ala181Thr Single submitter ⚠
p.Ala209Val Single submitter ⚠
p.Ala231Thr Single submitter ⚠
p.Ala257Gly Single submitter ⚠
p.Ala257Thr Single submitter ⚠
p.Ala280Thr Single submitter ⚠
p.Ala291Thr Single submitter
p.Ala342Thr Single submitter ⚠
p.Ala566Thr Single submitter ⚠
p.Ala792Val Single submitter ⚠
p.Ala827Ser Single submitter ⚠
p.Ala835Thr Single submitter ⚠
p.Arg213Cys Single submitter ⚠
p.Arg213His Single submitter ⚠
p.Arg243Gln Single submitter ⚠
p.Arg243Leu Single submitter ⚠
p.Arg410His Single submitter ⚠
p.Arg491Gln Single submitter ⚠
p.Arg500Gln Single submitter ⚠
p.Arg579His Single submitter ⚠
p.Arg622Lys Single submitter ⚠
p.Arg722His Single submitter malignant hyperthermia of anesthesia ⚠
p.Arg786Lys Single submitter ⚠
p.Arg803Gln Single submitter ⚠
p.Arg816Gln Single submitter ⚠
p.Arg86Ser Single submitter ⚠
p.Asn438Ser Single submitter ⚠
p.Asn756Lys Single submitter ⚠
p.Asn761Thr Single submitter ⚠
p.Asp14Glu Single submitter ⚠
p.Asp23His Single submitter ⚠
p.Asp297Asn Single submitter
p.Asp301Asn Single submitter ⚠
p.Asp384Asn Single submitter ⚠
p.Asp384Gly Single submitter ⚠
p.Asp389His Single submitter ⚠
p.Asp708Tyr Single submitter ⚠
p.Asp826Gly Single submitter ⚠
p.Asp8Ala Single submitter ⚠
p.Cys21Ter Single submitter
p.Cys716Arg Single submitter ⚠
p.Gln261Arg Single submitter ⚠
p.Gln39Arg Single submitter ⚠
p.Gln39Lys Single submitter ⚠
p.Glu107Lys Single submitter ⚠
p.Glu189Asp Single submitter ⚠
p.Glu312Ala Single submitter ⚠
p.Glu360Asp Single submitter ⚠
p.Glu362Lys Single submitter ⚠
p.Glu406Lys Single submitter ⚠
p.Glu467Ala Single submitter ⚠
p.Gly169Arg Single submitter ⚠
p.Gly225Arg Single submitter ⚠
p.Gly249Asp Single submitter ⚠
p.Gly345Arg Single submitter ⚠
p.Gly460Ser Single submitter ⚠
p.Gly51Glu Single submitter ⚠
p.Gly548Asp Single submitter ⚠
p.Gly602Arg Single submitter ⚠
p.Gly724Asp Single submitter ⚠
p.Gly820Arg Single submitter ⚠
p.Gly837Arg Single submitter ⚠
p.Gly90Ser Single submitter ⚠
p.Gly93Ser Single submitter ⚠
p.His167Arg Single submitter ⚠
p.His65Gln Single submitter ⚠
p.Ile118Phe Single submitter ⚠
p.Ile174Phe Single submitter ⚠
p.Ile210Phe Single submitter ⚠
p.Ile210Ser Single submitter ⚠
p.Ile358Met Single submitter ⚠
p.Ile434Val Single submitter ⚠
p.Ile673Leu Single submitter ⚠
p.Ile706Met Single submitter ⚠
p.Ile84Thr Single submitter ⚠
p.Leu177His Single submitter ⚠
p.Leu329Phe Single submitter ⚠
p.Leu340Pro Single submitter ⚠
p.Leu515Arg Single submitter ⚠
p.Leu679Val Single submitter ⚠
p.Lys571Thr Single submitter ⚠
p.Lys640Glu Single submitter ⚠
p.Lys789Arg Single submitter ⚠
p.Met309Val Single submitter ⚠
p.Met413Val Single submitter ⚠
p.Met678Val Single submitter ⚠
p.Phe370Tyr Single submitter ⚠
p.Phe430Leu Single submitter ⚠
p.Phe59Leu Single submitter ⚠
p.Pro24Ser Single submitter ⚠
p.Pro322Leu Single submitter
p.Pro361Ser Single submitter ⚠
p.Pro38Thr Single submitter ⚠
p.Pro462Ser Single submitter ⚠
p.Pro501Leu Single submitter ⚠
p.Pro608Leu Single submitter ⚠
p.Pro733Ser Single submitter
p.Pro74Leu Single submitter ⚠
p.Ser186Arg Single submitter ⚠
p.Ser198Asn Single submitter ⚠
p.Ser283Leu Single submitter ⚠
p.Ser403Arg Single submitter
p.Ser481Cys Single submitter ⚠
p.Ser544Phe Single submitter ⚠
p.Ser613Leu Single submitter ⚠
p.Ser72Tyr Single submitter ⚠
p.Thr184Met Single submitter ⚠
p.Thr196Met Single submitter ⚠
p.Thr287Met Single submitter ⚠
p.Thr299Met Single submitter ⚠
p.Thr303Met Single submitter ⚠
p.Thr307Met Single submitter ⚠
p.Thr323Ser Single submitter ⚠
p.Thr330Ala Single submitter ⚠
p.Thr371Ile Single submitter ⚠
p.Thr42Met Single submitter ⚠
p.Thr505Ile Single submitter ⚠
p.Thr556Asn Single submitter ⚠
p.Thr709Met Single submitter ⚠
p.Thr77Ile Single submitter ⚠
p.Thr77Ser Single submitter ⚠
p.Trp616Arg Single submitter ⚠
p.Trp741Gly Single submitter ⚠
p.Trp750Arg Single submitter ⚠
p.Tyr487Ser Single submitter ⚠
p.Tyr537His Single submitter ⚠
p.Tyr628Cys Single submitter ⚠
p.Val122Ile Single submitter ⚠
p.Val567Ile Single submitter ⚠
p.Val586Ile Single submitter ⚠
p.Val794Ala Single submitter