ERCC6L — 83 ClinVar variants

All ClinVar germline ERCC6L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

1 Conflicting · 3 Benign · 8 Likely benign · 71 Uncertain significance

Full ERCC6L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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.

ERCC6L p.Ala343Pro Conflicting Single submitter

Predictors lean, ClinVar uncertain 59

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

Predictors split 9

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

All ERCC6L variants

Conflicting classifications of pathogenicity 1

p.Ala343Pro Single submitter ⚠

Benign 3

p.Asn189Ser Multiple submitters
p.Lys166= Multiple submitters
p.Arg90Gln Single submitter

Likely benign 8

p.Arg891His Single submitter
p.Asp1116Asn Single submitter
p.Glu863Gly Single submitter
p.Gly1136= Single submitter
p.Ile247Val Single submitter
p.Leu1099= Single submitter
p.Val1083Ile Single submitter
p.Gly1148Arg No assertion criteria

Uncertain significance 71

p.Ala71Thr Single submitter ⚠
p.Ala773Thr Single submitter ⚠
p.Ala990Gly Single submitter ⚠
p.Arg245His Single submitter ⚠
p.Arg398His Single submitter ⚠
p.Arg420Trp Single submitter ⚠
p.Arg519Ile Single submitter
p.Arg989Gly Single submitter ⚠
p.Asn346Ile Single submitter ⚠
p.Asn840Ser Single submitter ⚠
p.Asn911Ser Single submitter ⚠
p.Asn963Asp Single submitter ⚠
p.Asp113Asn Single submitter ⚠
p.Asp1233His Single submitter ⚠
p.Asp36Glu Single submitter ⚠
p.Asp452Asn Single submitter ⚠
p.Asp467Asn Single submitter ⚠
p.Asp632Gly Single submitter ⚠
p.Asp887Asn Single submitter ⚠
p.Gln1052His Single submitter ⚠
p.Gln1058Pro Single submitter ⚠
p.Gln17His Single submitter ⚠
p.Gln524Leu Single submitter ⚠
p.Gln753Arg Single submitter ⚠
p.Gln970Glu Single submitter ⚠
p.Glu1012Val Single submitter ⚠
p.Glu1183Gln Single submitter ⚠
p.Glu1212Gly Single submitter ⚠
p.Glu1218Asp Single submitter ⚠
p.Glu626Gln Single submitter ⚠
p.Glu72Lys Single submitter ⚠
p.Glu846Gln Single submitter ⚠
p.Glu904Gln Single submitter ⚠
p.Glu935fs Single submitter
p.Glu9Asp Single submitter ⚠
p.Gly277Ala Single submitter ⚠
p.Ile119Met Single submitter ⚠
p.Ile260Val Single submitter ⚠
p.Ile492Thr Single submitter ⚠
p.Ile50Val Single submitter ⚠
p.Ile660Val Single submitter ⚠
p.Ile671Leu Single submitter ⚠
p.Ile768Thr Single submitter ⚠
p.Ile777Thr Single submitter ⚠
p.Ile901Thr Single submitter ⚠
p.Leu1203Phe Single submitter ⚠
p.Leu376Ser Single submitter ⚠
p.Leu416Val Single submitter ⚠
p.Leu513Phe Single submitter ⚠
p.Leu869Ile Single submitter ⚠
p.Lys55Arg Single submitter ⚠
p.Lys613Glu Single submitter ⚠
p.Phe501Leu Single submitter ⚠
p.Pro1165Ser Single submitter ⚠
p.Pro1234Ser Single submitter ⚠
p.Pro375Ser Single submitter ⚠
p.Pro815Ser Single submitter ⚠
p.Pro942His Single submitter ⚠
p.Ser1028Pro Single submitter ⚠
p.Ser250Asn Single submitter ⚠
p.Ser485Leu Single submitter
p.Ser694Tyr Single submitter ⚠
p.Ser945Ala Single submitter ⚠
p.Thr1172Ala Single submitter ⚠
p.Trp896Gly Single submitter ⚠
p.Tyr324Cys Single submitter ⚠
p.Tyr595His Single submitter ⚠
p.Val333Ile Single submitter ⚠
p.Val599Leu Single submitter ⚠
p.Val701Ala Single submitter ⚠
p.Val821Ile Single submitter ⚠