Sugi Variant

Sugi Variant/MYL4

MYL4 — 300 ClinVar variants

All ClinVar germline MYL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

5 Pathogenic · 10 Likely pathogenic · 3 Conflicting · 18 Benign · 4 Benign/Likely benign · 102 Likely benign · 158 Uncertain significance

Full MYL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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.

Predictors lean, ClinVar uncertain 104

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

Predictors split 28

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

All MYL4 variants

Pathogenic 5

  • p.Gln121Ter Single submitter atrial fibrillation, familial, 18
  • p.Gln178Ter Single submitter atrial fibrillation, familial, 18
  • p.Glu11Lys Single submitter atrial fibrillation, familial, 18
  • p.Gly152fs Single submitter atrial fibrillation, familial, 18
  • p.Phe63fs Single submitter atrial fibrillation, familial, 18

Likely pathogenic 10

  • c.135+1G>A Single submitter atrial fibrillation, familial, 18
  • c.136-2A>C Single submitter atrial fibrillation, familial, 18
  • c.163+1G>A Single submitter atrial fibrillation, familial, 18
  • c.164-1G>C Single submitter atrial fibrillation, familial, 18
  • c.313+1G>T Single submitter atrial fibrillation, familial, 18
  • c.314-1G>C Single submitter atrial fibrillation, familial, 18
  • c.487+1G>A Single submitter atrial fibrillation, familial, 18
  • c.487+1G>C Single submitter atrial fibrillation, familial, 18
  • c.488-1G>A Single submitter atrial fibrillation, familial, 18
  • p.Cys78Ter Single submitter atrial fibrillation, familial, 18

Conflicting classifications of pathogenicity 3

  • p.16AP[9] Single submitter atrial fibrillation, familial, 18
  • p.Cys78fs Single submitter MYL4-related disorder
  • p.Phe56Ser Single submitter atrial fibrillation, familial, 18 ⚠

Benign 18

Benign/Likely benign 4

  • c.488-4G>A Multiple submitters atrial fibrillation, familial, 18
  • c.565+11G>A Multiple submitters atrial fibrillation, familial, 18
  • c.566-4C>T Multiple submitters atrial fibrillation, familial, 18
  • p.Asn186Tyr Multiple submitters atrial fibrillation, familial, 18

Likely benign 102

  • c.163+17C>A Multiple submitters atrial fibrillation, familial, 18
  • c.164-8C>T Multiple submitters atrial fibrillation, familial, 18
  • c.313+15A>G Multiple submitters atrial fibrillation, familial, 18
  • c.313+9G>A Multiple submitters atrial fibrillation, familial, 18
  • c.487+14G>A Multiple submitters atrial fibrillation, familial, 18
  • c.565+10C>T Multiple submitters atrial fibrillation, familial, 18
  • c.565+12C>T Multiple submitters atrial fibrillation, familial, 18
  • c.565+13G>A Multiple submitters atrial fibrillation, familial, 18
  • c.565+19C>T Multiple submitters atrial fibrillation, familial, 18
  • p.Cys78= Multiple submitters atrial fibrillation, familial, 18
  • p.Lys127= Multiple submitters atrial fibrillation, familial, 18
  • p.Phe113Leu Multiple submitters atrial fibrillation, familial, 18
  • p.Phe135= Multiple submitters atrial fibrillation, familial, 18
  • p.Pro67= Multiple submitters atrial fibrillation, familial, 18
  • p.Thr115= Multiple submitters atrial fibrillation, familial, 18
  • c.135+10G>A Single submitter atrial fibrillation, familial, 18
  • c.135+14A>G Single submitter atrial fibrillation, familial, 18
  • c.135+18A>T Single submitter atrial fibrillation, familial, 18
  • c.135+19T>C Single submitter atrial fibrillation, familial, 18
  • c.136-106G>A Single submitter
  • c.136-12C>T Single submitter atrial fibrillation, familial, 18
  • c.136-18_136-16del Single submitter atrial fibrillation, familial, 18
  • c.136-20T>C Single submitter atrial fibrillation, familial, 18
  • c.163+16C>T Single submitter atrial fibrillation, familial, 18
  • c.163+17C>G Single submitter atrial fibrillation, familial, 18
  • c.164-13C>G Single submitter atrial fibrillation, familial, 18
  • c.164-16G>A Single submitter atrial fibrillation, familial, 18
  • c.164-20G>A Single submitter atrial fibrillation, familial, 18
  • c.164-4A>C Single submitter atrial fibrillation, familial, 18
  • c.313+13G>T Single submitter atrial fibrillation, familial, 18
  • c.313+16T>C Single submitter atrial fibrillation, familial, 18
  • c.313+19C>T Single submitter atrial fibrillation, familial, 18
  • c.313+8C>A Single submitter atrial fibrillation, familial, 18
  • c.313+8C>T Single submitter atrial fibrillation, familial, 18
  • c.314-11C>T Single submitter atrial fibrillation, familial, 18
  • c.314-15C>T Single submitter atrial fibrillation, familial, 18
  • c.314-16C>T Single submitter atrial fibrillation, familial, 18
  • c.314-6C>T Single submitter atrial fibrillation, familial, 18
  • c.314-9T>C Single submitter atrial fibrillation, familial, 18
  • c.487+13G>A Single submitter atrial fibrillation, familial, 18
  • c.487+17G>A Single submitter atrial fibrillation, familial, 18
  • c.487+20A>C Single submitter atrial fibrillation, familial, 18
  • c.488-10C>A Single submitter atrial fibrillation, familial, 18
  • c.488-12A>C Single submitter atrial fibrillation, familial, 18
  • c.488-15C>T Single submitter atrial fibrillation, familial, 18
  • c.488-5del Single submitter
  • c.488-7= Single submitter
  • c.488-75G>A Single submitter
  • c.488-9C>A Single submitter atrial fibrillation, familial, 18
  • c.565+11G>T Single submitter atrial fibrillation, familial, 18
  • c.565+12C>A Single submitter atrial fibrillation, familial, 18
  • c.565+13G>C Single submitter atrial fibrillation, familial, 18
  • c.565+17T>C Single submitter atrial fibrillation, familial, 18
  • c.565+7A>G Single submitter atrial fibrillation, familial, 18
  • c.-3A>C Single submitter
  • c.-9C>T Single submitter
  • p.Ala189= Single submitter atrial fibrillation, familial, 18
  • p.Ala2= Single submitter atrial fibrillation, familial, 18
  • p.Ala22= Single submitter atrial fibrillation, familial, 18
  • p.Ala24= Single submitter atrial fibrillation, familial, 18
  • p.Ala28= Single submitter atrial fibrillation, familial, 18
  • p.Ala50= Single submitter atrial fibrillation, familial, 18
  • p.Ala84= Single submitter atrial fibrillation, familial, 18
  • p.Ala92= Single submitter atrial fibrillation, familial, 18
  • p.Arg140= Single submitter
  • p.Asn126= Single submitter atrial fibrillation, familial, 18
  • p.Asn147= Single submitter atrial fibrillation, familial, 18
  • p.Asn182= Single submitter atrial fibrillation, familial, 18
  • p.Asp143= Single submitter atrial fibrillation, familial, 18
  • p.Glu105= Single submitter atrial fibrillation, familial, 18
  • p.Glu133= Single submitter atrial fibrillation, familial, 18
  • p.Glu137= Single submitter atrial fibrillation, familial, 18
  • p.Glu145= Single submitter atrial fibrillation, familial, 18
  • p.Glu164= Single submitter atrial fibrillation, familial, 18
  • p.Glu168= Single submitter atrial fibrillation, familial, 18
  • p.Glu179= Single submitter atrial fibrillation, familial, 18
  • p.Glu70= Single submitter
  • p.Gly183= Single submitter atrial fibrillation, familial, 18
  • p.Gly69= Single submitter atrial fibrillation, familial, 18
  • p.His157= Single submitter atrial fibrillation, familial, 18
  • p.Ile194= Single submitter atrial fibrillation, familial, 18
  • p.Leu111= Single submitter atrial fibrillation, familial, 18
  • p.Leu117= Single submitter atrial fibrillation, familial, 18
  • p.Leu174= Single submitter atrial fibrillation, familial, 18
  • p.Leu62= Single submitter atrial fibrillation, familial, 18
  • p.Leu85= Single submitter atrial fibrillation, familial, 18
  • p.Lys100= Single submitter atrial fibrillation, familial, 18
  • p.Lys192= Single submitter atrial fibrillation, familial, 18
  • p.Lys57= Single submitter atrial fibrillation, familial, 18
  • p.Phe116= Single submitter atrial fibrillation, familial, 18
  • p.Pro101= Single submitter atrial fibrillation, familial, 18
  • p.Pro118= Single submitter atrial fibrillation, familial, 18
  • p.Pro19= Single submitter atrial fibrillation, familial, 18
  • p.Pro34= Single submitter atrial fibrillation, familial, 18
  • p.Ser196= Single submitter atrial fibrillation, familial, 18
  • p.Ser43= Single submitter atrial fibrillation, familial, 18
  • p.Ter198= Single submitter atrial fibrillation, familial, 18
  • p.Thr149= Single submitter atrial fibrillation, familial, 18
  • p.Tyr132= Single submitter atrial fibrillation, familial, 18
  • p.Tyr75= Single submitter atrial fibrillation, familial, 18
  • p.Val158= Single submitter atrial fibrillation, familial, 18
  • p.Val97= Single submitter atrial fibrillation, familial, 18

Uncertain significance 158