DCLRE1A — 143 ClinVar variants

All ClinVar germline DCLRE1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

16 Likely benign · 127 Uncertain significance

Full DCLRE1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 lean, ClinVar uncertain 92

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

Predictors split 36

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

All DCLRE1A variants

Likely benign 16

p.Ala274Gly Single submitter
p.Ala438Ser Single submitter
p.Ala55Thr Single submitter
p.Arg347Gln Single submitter
p.Arg633His Single submitter
p.Asn642Asp Single submitter
p.Gln480His Single submitter
p.Glu511Asp Single submitter
p.Gly576Glu Single submitter
p.His109Arg Single submitter
p.His423Tyr Single submitter
p.His871Arg Single submitter
p.Leu351Phe Single submitter
p.Ser215Leu Single submitter
p.Val205Ile Single submitter
p.Val721Met Single submitter ⚠

Uncertain significance 127

p.Cys161Arg Multiple submitters ⚠
p.Ala178Thr Single submitter ⚠
p.Ala193Val Single submitter ⚠
p.Ala496Pro Single submitter ⚠
p.Ala57Gly Single submitter ⚠
p.Ala676Thr Single submitter ⚠
p.Ala716Thr Single submitter ⚠
p.Ala77Ser Single submitter ⚠
p.Ala865Val Single submitter ⚠
p.Arg1002Cys Single submitter ⚠
p.Arg1002His Single submitter ⚠
p.Arg115His Single submitter ⚠
p.Arg150Cys Single submitter ⚠
p.Arg212Gly Single submitter ⚠
p.Arg276Cys Single submitter ⚠
p.Arg276His Single submitter ⚠
p.Arg368Trp Single submitter ⚠
p.Arg960Gln Single submitter ⚠
p.Asn391Thr Single submitter ⚠
p.Asn684Lys Single submitter ⚠
p.Asp337Asn Single submitter ⚠
p.Asp339Gly Single submitter ⚠
p.Asp819Tyr Single submitter ⚠
p.Asp975His Single submitter ⚠
p.Cys102Tyr Single submitter ⚠
p.Cys122Arg Single submitter ⚠
p.Cys649Phe Single submitter ⚠
p.Cys925Ser Single submitter ⚠
p.Gln718Glu Single submitter ⚠
p.Glu266Asp Single submitter ⚠
p.Glu327Lys Single submitter ⚠
p.Glu336Asp Single submitter ⚠
p.Glu432Lys Single submitter ⚠
p.Glu434Gly Single submitter ⚠
p.Glu56Lys Single submitter ⚠
p.Glu571Gln Single submitter ⚠
p.Glu571Gly Single submitter ⚠
p.Glu59Lys Single submitter ⚠
p.Glu95Asp Single submitter ⚠
p.Glu95Gly Single submitter ⚠
p.Gly1019Asp Single submitter ⚠
p.Gly204Ala Single submitter ⚠
p.Gly404Ser Single submitter ⚠
p.Gly516Ala Single submitter ⚠
p.Gly683Asp Single submitter ⚠
p.Gly807Cys Single submitter ⚠
p.Gly87Ala Single submitter ⚠
p.His310Arg Single submitter ⚠
p.His423Asp Single submitter ⚠
p.His436Tyr Single submitter ⚠
p.Ile31Met Single submitter ⚠
p.Ile31Phe Single submitter ⚠
p.Ile31Thr Single submitter ⚠
p.Ile754Thr Single submitter ⚠
p.Ile890Thr Single submitter ⚠
p.Ile913Thr Single submitter ⚠
p.Ile973Thr Single submitter ⚠
p.Leu1036Trp Single submitter ⚠
p.Leu375Phe Single submitter ⚠
p.Leu418His Single submitter ⚠
p.Leu575Val Single submitter ⚠
p.Lys14Arg Single submitter ⚠
p.Lys429Arg Single submitter ⚠
p.Lys462Met Single submitter ⚠
p.Lys533Glu Single submitter ⚠
p.Lys543Asn Single submitter ⚠
p.Lys552Met Single submitter ⚠
p.Lys594Arg Single submitter ⚠
p.Lys760Arg Single submitter ⚠
p.Lys904Gln Single submitter ⚠
p.Met1027Val Single submitter ⚠
p.Met465Ile Single submitter ⚠
p.Met554Ile Single submitter ⚠
p.Met554Leu Single submitter ⚠
p.Met934Val Single submitter ⚠
p.Phe129Ser Single submitter ⚠
p.Phe235Tyr Single submitter ⚠
p.Phe857Leu Single submitter ⚠
p.Pro1014Arg Single submitter ⚠
p.Pro166Ala Single submitter ⚠
p.Pro19Ser Single submitter ⚠
p.Pro239Leu Single submitter ⚠
p.Pro316Ser Single submitter ⚠
p.Pro397Ser Single submitter ⚠
p.Pro532Leu Single submitter ⚠
p.Pro549Leu Single submitter ⚠
p.Pro914Ser Single submitter ⚠
p.Pro961Ser Single submitter ⚠
p.Pro990Thr Single submitter ⚠
p.Ser130Phe Single submitter ⚠
p.Ser255Tyr Single submitter ⚠
p.Ser457Cys Single submitter ⚠
p.Ser597Leu Single submitter ⚠
p.Ser615Asn Single submitter ⚠
p.Ser615Gly Single submitter ⚠
p.Ser643Leu Single submitter ⚠
p.Ser79Gly Single submitter ⚠
p.Thr164Ala Single submitter ⚠
p.Thr164Pro Single submitter ⚠
p.Thr309Ile Single submitter ⚠
p.Thr309Ser Single submitter ⚠
p.Thr519Ala Single submitter ⚠
p.Thr523Ala Single submitter ⚠
p.Thr551Ala Single submitter ⚠
p.Thr551Ile Single submitter ⚠
p.Thr616Ile Single submitter ⚠
p.Thr861Ala Single submitter ⚠
p.Thr861Pro Single submitter ⚠
p.Thr962Ala Single submitter ⚠
p.Thr980Ile Single submitter ⚠
p.Trp139Arg Single submitter ⚠
p.Tyr172His Single submitter ⚠
p.Tyr216Cys Single submitter ⚠
p.Tyr216Ser Single submitter ⚠
p.Tyr300Cys Single submitter ⚠
p.Tyr704Cys Single submitter ⚠
p.Tyr750Phe Single submitter ⚠
p.Tyr836Cys Single submitter ⚠
p.Tyr905Cys Single submitter ⚠
p.Tyr991Cys Single submitter ⚠
p.Val117Gly Single submitter ⚠
p.Val271Ala Single submitter ⚠
p.Val273Ala Single submitter ⚠
p.Val273Ile Single submitter ⚠
p.Val553Ile Single submitter ⚠
p.Val561Gly Single submitter ⚠
p.Val624Gly Single submitter ⚠