YTHDF1 — 88 ClinVar variants

All ClinVar germline YTHDF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

7 Benign · 5 Likely benign · 76 Uncertain significance

Full YTHDF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 67

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

Predictors split 5

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

All YTHDF1 variants

Benign 7

p.Asn497= Multiple submitters
p.His375Tyr Multiple submitters
p.Lys473= Multiple submitters
p.Ser145= Multiple submitters
p.Ser252= Multiple submitters
p.Val195= Multiple submitters
p.Asn486= Single submitter

Likely benign 5

p.Asn71Ser Single submitter
p.Pro315Leu Single submitter
p.Ser171= Single submitter
p.Ser341= Single submitter
p.Val206= Single submitter

Uncertain significance 76

p.Ala146Thr Single submitter ⚠
p.Ala199Ser Single submitter ⚠
p.Ala302Gly Single submitter ⚠
p.Ala78Ser Single submitter ⚠
p.Arg542Cys Single submitter ⚠
p.Arg542Gly Single submitter ⚠
p.Arg553Gln Single submitter ⚠
p.Arg556Gln Single submitter ⚠
p.Asn113Ser Single submitter ⚠
p.Asn121Ser Single submitter ⚠
p.Asn181Lys Single submitter ⚠
p.Asn20Ser Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn499Thr Single submitter ⚠
p.Asp15Asn Single submitter ⚠
p.Asp172Asn Single submitter ⚠
p.Asp27Asn Single submitter ⚠
p.Asp27Gly Single submitter ⚠
p.Asp347Asn Single submitter ⚠
p.Asp498Glu Single submitter ⚠
p.Asp53Glu Single submitter ⚠
p.Asp7Asn Single submitter ⚠
p.Gln245Leu Single submitter ⚠
p.Gln25Arg Single submitter ⚠
p.Gln293Arg Single submitter ⚠
p.Glu545Lys Single submitter ⚠
p.Gly186Arg Single submitter ⚠
p.Gly342Arg Single submitter ⚠
p.Gly352Arg Single submitter ⚠
p.Gly432Arg Single submitter ⚠
p.His24Gln Single submitter ⚠
p.His24Tyr Single submitter ⚠
p.His528Asn Single submitter ⚠
p.His97Gln Single submitter ⚠
p.Ile532Val Single submitter ⚠
p.Lys380Glu Single submitter ⚠
p.Lys500Thr Single submitter ⚠
p.Met180Leu Single submitter ⚠
p.Met248Ile Single submitter ⚠
p.Met428Val Single submitter ⚠
p.Pro108Ser Single submitter ⚠
p.Pro127Leu Single submitter ⚠
p.Pro231Leu Single submitter
p.Pro261Ser Single submitter ⚠
p.Pro264Ser Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro296Ala Single submitter ⚠
p.Pro304Ser Single submitter ⚠
p.Pro310Arg Single submitter ⚠
p.Pro324Leu Single submitter ⚠
p.Pro331Ser Single submitter ⚠
p.Pro379Ala Single submitter ⚠
p.Pro49Ser Single submitter ⚠
p.Pro62Leu Single submitter ⚠
p.Pro74Leu Single submitter
p.Ser137Cys Single submitter ⚠
p.Ser149Asn Single submitter ⚠
p.Ser198Phe Single submitter
p.Ser229Thr Single submitter ⚠
p.Ser22Leu Single submitter ⚠
p.Ser341Asn Single submitter ⚠
p.Ser348Gly Single submitter ⚠
p.Ser361Gly Single submitter ⚠
p.Ser388Asn Single submitter ⚠
p.Ser423Asn Single submitter ⚠
p.Ser47Arg Single submitter ⚠
p.Ser93Gly Single submitter ⚠
p.Tyr408Cys Single submitter ⚠
p.Val195Ile Single submitter ⚠
p.Val200Ile Single submitter ⚠
p.Val206Ile Single submitter ⚠
p.Val210Met Single submitter ⚠
p.Val224Met Single submitter ⚠
p.Val354Ile Single submitter ⚠
p.Val464fs Single submitter
p.Val511Leu Single submitter ⚠