HTR1A — 62 ClinVar variants

All ClinVar germline HTR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

3 Conflicting · 3 Benign · 3 Benign/Likely benign · 11 Likely benign · 42 Uncertain significance

Full HTR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 40

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.

HTR1A p.Ala244Thr Conflicting Single submitter
HTR1A p.Gly237Arg Conflicting Single submitter
menstrual cycle-dependent periodic fever

Predictors lean, ClinVar uncertain 33

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

Predictors split 5

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

All HTR1A variants

Conflicting classifications of pathogenicity 3

c.-480del Single submitter menstrual cycle-dependent periodic fever
p.Ala244Thr Single submitter ⚠
p.Gly237Arg Single submitter menstrual cycle-dependent periodic fever ⚠

Benign 3

p.Ile28Val Multiple submitters
p.Gly273Asp Single submitter
p.Pro16Leu Single submitter

Benign/Likely benign 3

p.Arg220Leu Multiple submitters
p.Pro141= Multiple submitters
p.Ser182Leu Multiple submitters

Likely benign 11

c.-1019G>C Single submitter
p.Ala155= Single submitter
p.Ala155Gly Single submitter
p.Asp285Glu Single submitter
p.Asp286= Single submitter
p.Gly287= Single submitter
p.Ile130= Single submitter
p.Lys334= Single submitter
p.Lys334Gln Single submitter
p.Thr32= Single submitter
p.Asn325= No assertion criteria HTR1A-related disorder

Uncertain significance 42

p.Met92Thr Multiple submitters ⚠
p.Ala114Thr Single submitter ⚠
p.Ala319Thr Single submitter ⚠
p.Ala329Ser Single submitter ⚠
p.Ala329Thr Single submitter ⚠
p.Ala62Ser Single submitter ⚠
p.Arg181Cys Single submitter ⚠
p.Arg223Cys Single submitter ⚠
p.Arg225Cys Single submitter ⚠
p.Arg225His Single submitter ⚠
p.Arg225Ser Single submitter ⚠
p.Arg227Leu Single submitter ⚠
p.Arg241Gly Single submitter ⚠
p.Arg297Gly Single submitter ⚠
p.Arg327_Thr346del Single submitter menstrual cycle-dependent periodic fever
p.Arg339fs Single submitter
p.Arg341Lys Single submitter ⚠
p.Arg421Gly Single submitter ⚠
p.Asn11Thr Single submitter ⚠
p.Asn300Asp Single submitter ⚠
p.Asn396Thr Single submitter ⚠
p.Asn72Ser Single submitter
p.Asp185Glu Single submitter ⚠
p.Glu310Lys Single submitter ⚠
p.Gly352Ser Single submitter ⚠
p.Ile355Val Single submitter ⚠
p.Ile75Met Single submitter ⚠
p.Leu104Pro Single submitter ⚠
p.Leu208Pro Single submitter ⚠
p.Leu99Phe Single submitter
p.Lys147Glu Single submitter ⚠
p.Lys251Asn Single submitter ⚠
p.Lys416Met Single submitter ⚠
p.Pro18Ser Single submitter ⚠
p.Pro246His Single submitter ⚠
p.Pro250Ser Single submitter ⚠
p.Ser260Asn Single submitter ⚠
p.Ser301Phe Single submitter ⚠
p.Thr139Met Single submitter ⚠
p.Thr149Ser Single submitter ⚠
p.Tyr35Phe Single submitter ⚠
p.Val37Met Single submitter ⚠