ACTL7A — 85 ClinVar variants

All ClinVar germline ACTL7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 4 Likely benign · 73 Uncertain significance

Full ACTL7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 39

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

Predictors split 35

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

All ACTL7A variants

Pathogenic 6

p.Ala245Thr No assertion criteria spermatogenic failure 86
p.Arg155Ter No assertion criteria spermatogenic failure 86
p.Glu50fs No assertion criteria Male infertility with normal semen parameters
p.Gly246Ala No assertion criteria spermatogenic failure 86
p.Gly362Arg No assertion criteria spermatogenic failure 86
p.Ser49Ter No assertion criteria spermatogenic failure 86

Likely pathogenic 2

p.Arg373His Single submitter spermatogenic failure 86
p.Gly402Ser Single submitter spermatogenic failure 86

Likely benign 4

p.His128Arg Single submitter
p.Ile287Thr Single submitter
p.Leu257Met Single submitter ⚠
p.Pro387= Single submitter

Uncertain significance 73

p.Ala166Glu Single submitter ⚠
p.Ala166Val Single submitter ⚠
p.Ala190Asp Single submitter ⚠
p.Ala27Asp Single submitter ⚠
p.Ala86Gly Single submitter ⚠
p.Arg113Cys Single submitter ⚠
p.Arg113His Single submitter ⚠
p.Arg136Leu Single submitter ⚠
p.Arg155Gln Single submitter ⚠
p.Arg203Cys Single submitter ⚠
p.Arg241Ser Single submitter ⚠
p.Arg300His Single submitter ⚠
p.Arg315Gln Single submitter ⚠
p.Arg34Trp Single submitter ⚠
p.Arg352Trp Single submitter ⚠
p.Arg395Gly Single submitter ⚠
p.Arg40Gln Single submitter ⚠
p.Arg419His Single submitter ⚠
p.Arg63Met Single submitter ⚠
p.Asn112Lys Single submitter ⚠
p.Asn258Tyr Single submitter ⚠
p.Asp35Asn Single submitter ⚠
p.Cys318Gly Single submitter ⚠
p.Cys382Tyr Single submitter ⚠
p.Cys81Arg Single submitter ⚠
p.Gln332Pro Single submitter ⚠
p.Gln338Arg Single submitter ⚠
p.Gln338His Single submitter ⚠
p.Gln338Pro Single submitter ⚠
p.Glu231Lys Single submitter ⚠
p.Glu263Lys Single submitter ⚠
p.Glu289Gly Single submitter ⚠
p.Glu53Gly Single submitter ⚠
p.Gly110Glu Single submitter ⚠
p.Gly240Arg Single submitter ⚠
p.Gly270Cys Single submitter ⚠
p.Gly363Ser Single submitter ⚠
p.His297Gln Single submitter ⚠
p.Ile149Asn Single submitter ⚠
p.Leu317Arg Single submitter ⚠
p.Met196Val Single submitter ⚠
p.Met206Val Single submitter ⚠
p.Met321Leu Single submitter ⚠
p.Met355Ile Single submitter ⚠
p.Met381Thr Single submitter ⚠
p.Phe316Cys Single submitter ⚠
p.Phe316Val Single submitter ⚠
p.Pro162Leu Single submitter ⚠
p.Pro162Ser Single submitter ⚠
p.Pro172Leu Single submitter ⚠
p.Pro194Ala Single submitter ⚠
p.Pro194Ser Single submitter ⚠
p.Pro22Leu Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Pro51Arg Single submitter ⚠
p.Ser295Gly Single submitter ⚠
p.Ser32Phe Single submitter ⚠
p.Ser380Arg Single submitter ⚠
p.Thr145Ile Single submitter ⚠
p.Thr14Ile Single submitter ⚠
p.Thr337Asn Single submitter ⚠
p.Tyr103His Single submitter ⚠
p.Val118Met Single submitter ⚠
p.Val127Ile Single submitter ⚠
p.Val141Met Single submitter ⚠
p.Val223Met Single submitter ⚠
p.Val282Ala Single submitter ⚠
p.Val302Met Single submitter ⚠
p.Val340Ala Single submitter ⚠
p.Val391Leu Single submitter ⚠
p.Val417Ile Single submitter ⚠
p.Val42Met Single submitter ⚠
p.Val99Gly Single submitter ⚠