EFCAB3 — 48 ClinVar variants
All ClinVar germline EFCAB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
4 Benign · 1 Benign/Likely benign · 3 Likely benign · 40 Uncertain significance
Full EFCAB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFCAB3 p.Ala208Thr Uncertain significance Single submitter
- EFCAB3 p.Ala334Thr Uncertain significance Single submitter
- EFCAB3 p.Ala77Thr Uncertain significance Single submitter
- EFCAB3 p.Arg167Lys Uncertain significance Single submitter
- EFCAB3 p.Arg228Ser Uncertain significance Single submitter
- EFCAB3 p.Arg25Ser Uncertain significance Single submitter
- EFCAB3 p.Asn13Thr Uncertain significance Single submitter
- EFCAB3 p.Asp26Asn Uncertain significance Single submitter
- EFCAB3 p.Asp336Asn Uncertain significance Single submitter
- EFCAB3 p.Asp87Gly Uncertain significance Single submitter
- EFCAB3 p.Cys35Arg Uncertain significance Single submitter
- EFCAB3 p.Gly101Arg Uncertain significance Single submitter
- EFCAB3 p.His282Arg Uncertain significance Single submitter
- EFCAB3 p.His86Arg Uncertain significance Single submitter
- EFCAB3 p.Ile138Met Uncertain significance Single submitter
- EFCAB3 p.Leu353Phe Uncertain significance Single submitter
- EFCAB3 p.Leu396Phe Uncertain significance Single submitter
- EFCAB3 p.Lys256Arg Uncertain significance Single submitter
- EFCAB3 p.Lys85Gln Uncertain significance Single submitter
- EFCAB3 p.Met266Ile Uncertain significance Single submitter
- EFCAB3 p.Pro272Ala Uncertain significance Single submitter
- EFCAB3 p.Pro272Thr Uncertain significance Single submitter
- EFCAB3 p.Pro391Ala Uncertain significance Single submitter
- EFCAB3 p.Ser199Cys Uncertain significance Single submitter
- EFCAB3 p.Ser409Ala Uncertain significance Single submitter
- EFCAB3 p.Ser45Thr Uncertain significance Single submitter
- EFCAB3 p.Thr150Ile Uncertain significance Single submitter
- EFCAB3 p.Thr182Ile Uncertain significance Single submitter
- EFCAB3 p.Thr374Ser Uncertain significance Single submitter
- EFCAB3 p.Thr422Pro Uncertain significance Single submitter
- EFCAB3 p.Val88Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EFCAB3 p.Arg210Trp Uncertain significance Single submitter
- EFCAB3 p.Arg395Gly Uncertain significance Single submitter
- EFCAB3 p.Asp323Asn Uncertain significance Single submitter
- EFCAB3 p.Asp54Gly Uncertain significance Single submitter
- EFCAB3 p.Phe59Leu Uncertain significance Single submitter
- EFCAB3 p.Tyr372Cys Uncertain significance Single submitter
All EFCAB3 variants
Benign 4
- c.34+6G>T Multiple submitters
- c.488+2T>C Multiple submitters
- p.Lys15Asn Multiple submitters
- p.Ser370Phe Multiple submitters
Benign/Likely benign 1
- p.Arg99Ter Multiple submitters
Likely benign 3
- p.Ala55= Single submitter
- p.Asn230Ser Single submitter
- p.Met176Ile Single submitter
Uncertain significance 40
- c.-5G>A Single submitter
- c.-8C>G Single submitter
- p.Ala208Thr Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Arg167Lys Single submitter ⚠
- p.Arg210Trp Single submitter ⚠
- p.Arg228Ser Single submitter ⚠
- p.Arg25Ser Single submitter ⚠
- p.Arg395Gly Single submitter ⚠
- p.Asn13Thr Single submitter ⚠
- p.Asp260Ala Single submitter
- p.Asp26Asn Single submitter ⚠
- p.Asp323Asn Single submitter ⚠
- p.Asp336Asn Single submitter ⚠
- p.Asp54Gly Single submitter ⚠
- p.Asp87Gly Single submitter ⚠
- p.Cys35Arg Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.His282Arg Single submitter ⚠
- p.His86Arg Single submitter ⚠
- p.Ile138Met Single submitter ⚠
- p.Leu353Phe Single submitter ⚠
- p.Leu396Phe Single submitter ⚠
- p.Lys256Arg Single submitter ⚠
- p.Lys85Gln Single submitter ⚠
- p.Met266Ile Single submitter ⚠
- p.Phe59Leu Single submitter ⚠
- p.Pro272Ala Single submitter ⚠
- p.Pro272Thr Single submitter ⚠
- p.Pro391Ala Single submitter ⚠
- p.Ser199Cys Single submitter ⚠
- p.Ser409Ala Single submitter ⚠
- p.Ser45Thr Single submitter ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr374Ser Single submitter ⚠
- p.Thr422Pro Single submitter ⚠
- p.Tyr372Cys Single submitter ⚠
- p.Val88Ala Single submitter ⚠