SPIDR — 141 ClinVar variants

All ClinVar germline SPIDR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 5 Benign · 1 Benign/Likely benign · 19 Likely benign · 108 Uncertain significance

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

⚑ Evidence disagreements 104

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.

SPIDR p.Lys295Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 90

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

Predictors split 13

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

All SPIDR variants

Pathogenic 4

c.776+1G>T No assertion criteria Genetic non-acquired premature ovarian failure
p.Arg272Ter No assertion criteria ovarian dysgenesis 9
p.Cys756fs No assertion criteria Genetic non-acquired premature ovarian failure
p.Trp280Ter No assertion criteria ovarian dysgenesis 9

Likely pathogenic 3

p.Ala577fs Single submitter ovarian dysgenesis 9
p.Cys702fs Single submitter ovarian dysgenesis 9
p.Val301fs Single submitter ovarian dysgenesis 9

Conflicting classifications of pathogenicity 1

p.Lys295Thr Single submitter ⚠

Benign 5

c.1773+9G>A Multiple submitters
p.Thr652Ala Multiple submitters
c.1978-10C>T Single submitter
c.1978-8A>C Single submitter
p.Pro809Leu Single submitter

Benign/Likely benign 1

c.877+6G>A Multiple submitters

Likely benign 19

p.Arg361= Multiple submitters
p.Met316Lys Multiple submitters
c.1977+25_1977+32del Single submitter
c.2550+51C>T Single submitter
c.256+7A>G Single submitter
c.526-8T>C Single submitter
p.Ala213= Single submitter
p.Arg585His Single submitter
p.Arg632His Single submitter
p.Arg804= Single submitter
p.Glu757Gly Single submitter
p.Gly503Arg Single submitter
p.Gly513Arg Single submitter
p.Gly528Ser Single submitter ⚠
p.Pro700Ser Single submitter
p.Ser537Leu Single submitter
p.Val360Leu Single submitter
p.Val890Ile Single submitter
c.526-1387G>A No assertion criteria SPIDR-related disorder

Uncertain significance 108

p.Asp463Val Multiple submitters ⚠
p.Ala349Thr Single submitter ⚠
p.Ala41Ser Single submitter ⚠
p.Ala713Val Single submitter ⚠
p.Ala725Thr Single submitter ⚠
p.Ala864Thr Single submitter ⚠
p.Arg12Lys Single submitter ⚠
p.Arg247Ser Single submitter ⚠
p.Arg335Lys Single submitter ⚠
p.Arg33Gly Single submitter ⚠
p.Arg355Cys Single submitter ⚠
p.Arg483Gln Single submitter ⚠
p.Arg632Cys Single submitter ⚠
p.Arg686Thr Single submitter ⚠
p.Arg731Gln Single submitter ⚠
p.Arg854Cys Single submitter ⚠
p.Asn426Ile Single submitter ⚠
p.Asn774Ile Single submitter ⚠
p.Asp112His Single submitter ⚠
p.Asp187Asn Single submitter ⚠
p.Asp496Glu Single submitter ⚠
p.Asp522Gly Single submitter ⚠
p.Asp677Asn Single submitter ⚠
p.Asp765Asn Single submitter ⚠
p.Asp819Asn Single submitter ⚠
p.Cys517Ser Single submitter ⚠
p.Cys547Arg Single submitter ⚠
p.Cys734Gly Single submitter ⚠
p.Cys885fs Single submitter ovarian dysgenesis 9
p.Gln502Arg Single submitter ⚠
p.Gln613Lys Single submitter ⚠
p.Gln743Arg Single submitter ⚠
p.Gln888His Single submitter ⚠
p.Glu147Lys Single submitter ⚠
p.Glu264Asp Single submitter ⚠
p.Glu347Asp Single submitter ⚠
p.Glu619Lys Single submitter ⚠
p.Glu68Lys Single submitter ⚠
p.Glu710Asp Single submitter ⚠
p.Glu74Gln Single submitter ⚠
p.Glu788Lys Single submitter
p.Glu810Lys Single submitter ⚠
p.Gly297Asp Single submitter ⚠
p.Gly322Arg Single submitter ⚠
p.Gly374Glu Single submitter ⚠
p.Gly612Glu Single submitter ⚠
p.Gly752Cys Single submitter ⚠
p.Gly818Glu Single submitter ⚠
p.His206Arg Single submitter ⚠
p.His531Leu Single submitter ⚠
p.His718Tyr Single submitter ⚠
p.Ile277Val Single submitter ⚠
p.Ile362Asn Single submitter ⚠
p.Ile370Val Single submitter ⚠
p.Ile379Thr Single submitter ⚠
p.Ile420Thr Single submitter ⚠
p.Ile420Val Single submitter ⚠
p.Ile566Phe Single submitter ⚠
p.Ile614Thr Single submitter ⚠
p.Ile616Lys Single submitter ⚠
p.Ile99Val Single submitter ⚠
p.Leu638Phe Single submitter ⚠
p.Leu666Pro Single submitter ⚠
p.Leu690Phe Single submitter ⚠
p.Leu740Phe Single submitter ⚠
p.Leu746Phe Single submitter ⚠
p.Leu833Val Single submitter
p.Leu882Phe Single submitter ⚠
p.Lys255Glu Single submitter ⚠
p.Lys289Arg Single submitter ⚠
p.Lys421Gln Single submitter ⚠
p.Lys545Arg Single submitter ⚠
p.Lys848Glu Single submitter ⚠
p.Lys878Arg Single submitter ⚠
p.Met316Val Single submitter ⚠
p.Phe792Cys Single submitter
p.Pro428Arg Single submitter ⚠
p.Pro588Ser Single submitter ⚠
p.Pro658Ala Single submitter ⚠
p.Pro717Leu Single submitter ⚠
p.Pro843Arg Single submitter ⚠
p.Ser102Ile Single submitter ⚠
p.Ser186Thr Single submitter ⚠
p.Ser188Asn Single submitter ⚠
p.Ser331Asn Single submitter ⚠
p.Ser394Ala Single submitter ⚠
p.Ser394Pro Single submitter ⚠
p.Ser413Phe Single submitter ⚠
p.Ser44Phe Single submitter ⚠
p.Ser458Arg Single submitter ⚠
p.Ser464Tyr Single submitter ⚠
p.Ser662Arg Single submitter ⚠
p.Ser858Phe Single submitter ⚠
p.Ser858Pro Single submitter
p.Thr645Pro Single submitter ⚠
p.Thr652Met Single submitter ⚠
p.Thr71Met Single submitter ⚠
p.Tyr208Asn Single submitter ⚠
p.Tyr623His Single submitter ⚠
p.Val469Leu Single submitter ⚠
p.Val486Met Single submitter ⚠
p.Val489Ala Single submitter ⚠
p.Val550Leu Single submitter ⚠
p.Val554Gly Single submitter
p.Val554Phe Single submitter ⚠
p.Val703Leu Single submitter ⚠
p.Val773Phe Single submitter ⚠
p.Val796Met Single submitter ⚠