ERLEC1 — 74 ClinVar variants

All ClinVar germline ERLEC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

4 Likely pathogenic · 1 Benign · 3 Likely benign · 66 Uncertain significance

Full ERLEC1 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 vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ERLEC1 p.Asn483Ser Likely pathogenic No assertion criteria
autosomal dominant prognathism
ERLEC1 p.Thr140Ile Likely pathogenic No assertion criteria
autosomal dominant prognathism
ERLEC1 p.Thr140Ser Likely pathogenic No assertion criteria
autosomal dominant prognathism

Predictors lean, ClinVar uncertain 46

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

Predictors split 20

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

All ERLEC1 variants

Likely pathogenic 4

p.Asn483Ser No assertion criteria autosomal dominant prognathism ⚠
p.His413Tyr No assertion criteria autosomal dominant prognathism
p.Thr140Ile No assertion criteria autosomal dominant prognathism ⚠
p.Thr140Ser No assertion criteria autosomal dominant prognathism ⚠

Benign 1

p.Tyr354= Multiple submitters

Likely benign 3

p.Arg346His Single submitter
p.Ile313Val Single submitter
p.Val286Met Single submitter

Uncertain significance 66

p.Ala306Val Single submitter ⚠
p.Ala390Val Single submitter ⚠
p.Arg116Thr Single submitter ⚠
p.Arg205Trp Single submitter ⚠
p.Arg346Leu Single submitter ⚠
p.Asp332Glu Single submitter ⚠
p.Asp368Glu Single submitter ⚠
p.Asp94Gly Single submitter ⚠
p.Cys113Phe Single submitter ⚠
p.Cys467Ser Single submitter ⚠
p.Gln184Glu Single submitter ⚠
p.Gln316Arg Single submitter ⚠
p.Gln333Glu Single submitter ⚠
p.Gln36His Single submitter ⚠
p.Gln401Arg Single submitter ⚠
p.Gln406Arg Single submitter ⚠
p.Gln456Arg Single submitter ⚠
p.Glu105Asp Single submitter ⚠
p.Glu166Lys Single submitter ⚠
p.Glu168Asp Single submitter ⚠
p.Glu384Lys Single submitter ⚠
p.Glu91Lys Single submitter ⚠
p.Gly23Ser Single submitter ⚠
p.Gly30Arg Single submitter ⚠
p.Gly372Arg Single submitter ⚠
p.Gly379Arg Single submitter ⚠
p.Gly97Val Single submitter ⚠
p.His130Arg Single submitter ⚠
p.His366Tyr Single submitter ⚠
p.Ile131Val Single submitter ⚠
p.Ile214Leu Single submitter ⚠
p.Ile283Val Single submitter ⚠
p.Ile420Val Single submitter ⚠
p.Leu11Pro Single submitter ⚠
p.Leu25Met Single submitter ⚠
p.Leu284Pro Single submitter ⚠
p.Leu450Val Single submitter ⚠
p.Leu479Ile Single submitter ⚠
p.Lys328Arg Single submitter ⚠
p.Lys360Arg Single submitter ⚠
p.Lys96Gln Single submitter ⚠
p.Met154Thr Single submitter ⚠
p.Met212Thr Single submitter ⚠
p.Pro13Leu Single submitter ⚠
p.Pro13Thr Single submitter ⚠
p.Pro317Ser Single submitter ⚠
p.Pro452Leu Single submitter ⚠
p.Ser10Asn Single submitter ⚠
p.Ser10Gly Single submitter ⚠
p.Ser28Phe Single submitter ⚠
p.Ser412Leu Single submitter ⚠
p.Ser454Ala Single submitter ⚠
p.Ser53Phe Single submitter ⚠
p.Thr186Ile Single submitter ⚠
p.Thr299Ala Single submitter ⚠
p.Thr394Ile Single submitter ⚠
p.Thr85Arg Single submitter ⚠
p.Tyr189His Single submitter ⚠
p.Tyr358Ser Single submitter ⚠
p.Val229Ala Single submitter ⚠
p.Val236Ile Single submitter ⚠
p.Val318Ala Single submitter ⚠
p.Val321Ala Single submitter ⚠
p.Val411Met Single submitter ⚠
p.Val430Leu Single submitter ⚠
p.Val45Leu Single submitter ⚠