ACP6 — 69 ClinVar variants

All ClinVar germline ACP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

1 Likely pathogenic · 3 Benign · 5 Likely benign · 60 Uncertain significance

Full ACP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 1

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

ACP6 p.Val127Met Likely pathogenic Single submitter
Cerebral visual impairment and intellectual disability

Predictors lean, ClinVar uncertain 32

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

Predictors split 30

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

All ACP6 variants

Likely pathogenic 1

p.Val127Met Single submitter Cerebral visual impairment and intellectual disability ⚠

Benign 3

p.Arg218Trp Multiple submitters ⚠
p.Leu224= Multiple submitters
p.Met402Val Single submitter

Likely benign 5

p.Arg238Gly Single submitter
p.Asp323Asn Single submitter ⚠
p.Met8Val Single submitter
p.Thr221Ala Single submitter
p.Val256Met Single submitter

Uncertain significance 60

p.Ala196Glu Single submitter ⚠
p.Ala257Thr Single submitter ⚠
p.Ala356Thr Single submitter ⚠
p.Ala61Gly Single submitter ⚠
p.Arg140Lys Single submitter ⚠
p.Arg162His Single submitter ⚠
p.Arg168Gln Single submitter ⚠
p.Arg168Trp Single submitter ⚠
p.Arg174His Single submitter ⚠
p.Arg212Lys Single submitter ⚠
p.Arg272Ile Single submitter ⚠
p.Arg275Lys Single submitter ⚠
p.Arg45His Single submitter ⚠
p.Asp245Asn Single submitter ⚠
p.Asp38Asn Single submitter ⚠
p.Asp390Val Single submitter ⚠
p.Asp396Asn Single submitter ⚠
p.Cys175Phe Single submitter ⚠
p.Gln109Arg Single submitter ⚠
p.Gln131His Single submitter ⚠
p.Gln220His Single submitter ⚠
p.Gln225Glu Single submitter ⚠
p.Glu137Lys Single submitter ⚠
p.Glu195Asp Single submitter ⚠
p.Glu309Gly Single submitter ⚠
p.Glu309Lys Single submitter ⚠
p.Glu371Asp Single submitter ⚠
p.Glu71Gln Single submitter ⚠
p.Gly118Asp Single submitter ⚠
p.Gly380Arg Single submitter ⚠
p.Gly4Asp Single submitter ⚠
p.His262Tyr Single submitter ⚠
p.Ile166Val Single submitter ⚠
p.Ile2Val Single submitter ⚠
p.Ile307Asn Single submitter ⚠
p.Leu68Val Single submitter ⚠
p.Lys101Gln Single submitter ⚠
p.Met119Val Single submitter ⚠
p.Met402Ile Single submitter ⚠
p.Met422Leu Single submitter ⚠
p.Met422Thr Single submitter ⚠
p.Phe120Ile Single submitter ⚠
p.Phe154Ile Single submitter ⚠
p.Phe373Leu Single submitter ⚠
p.Pro152Ser Single submitter ⚠
p.Pro203Ser Single submitter ⚠
p.Pro265Leu Single submitter ⚠
p.Pro354Leu Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro84Ser Single submitter ⚠
p.Ser210Thr Single submitter ⚠
p.Ser369Thr Single submitter ⚠
p.Ser63Asn Single submitter ⚠
p.Ser7Gly Single submitter ⚠
p.Tyr287Cys Single submitter ⚠
p.Tyr331Phe Single submitter ⚠
p.Tyr331Ser Single submitter ⚠
p.Val200Gly Single submitter ⚠
p.Val256Ala Single submitter ⚠
p.Val55Ile Single submitter ⚠