CFAP58 — 150 ClinVar variants

All ClinVar germline CFAP58 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 2 Benign · 10 Likely benign · 132 Uncertain significance

Full CFAP58 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 132

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 62

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

Predictors split 70

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

All CFAP58 variants

Pathogenic 5

p.Arg698Ter Single submitter spermatogenic failure 49
p.Gln566Ter No assertion criteria spermatogenic failure 49
p.His685fs No assertion criteria spermatogenic failure 49
p.Lys476_Ile477insTer No assertion criteria spermatogenic failure 49
p.Tyr758Ter No assertion criteria spermatogenic failure 49

Likely pathogenic 1

p.Gln454Ter Single submitter spermatogenic failure 49

Benign 2

p.Phe154Ser Single submitter
p.Thr868Asn Single submitter

Likely benign 10

p.Ala378= Single submitter
p.Arg696Cys Single submitter ⚠
p.Asn147= Single submitter
p.Asn398Ser Single submitter
p.Asp33= Single submitter
p.Asp845Glu Single submitter
p.Glu238= Single submitter
p.Ile421= Single submitter
p.Thr841Arg Single submitter
p.Val764Ile Single submitter

Uncertain significance 132

p.Thr783Met Multiple submitters CFAP58-related disorder ⚠
c.2039+3A>G Single submitter
p.Ala102Thr Single submitter ⚠
p.Ala177Pro Single submitter ⚠
p.Ala311Thr Single submitter ⚠
p.Ala311Val Single submitter ⚠
p.Ala396Val Single submitter ⚠
p.Ala399Thr Single submitter ⚠
p.Ala399Val Single submitter ⚠
p.Ala413Thr Single submitter CFAP58-related disorder ⚠
p.Ala539Thr Single submitter ⚠
p.Ala592Ser Single submitter ⚠
p.Ala69Ser Single submitter ⚠
p.Ala718Ser Single submitter ⚠
p.Ala766Asp Single submitter ⚠
p.Ala76Val Single submitter ⚠
p.Ala79Thr Single submitter ⚠
p.Ala842Gly Single submitter ⚠
p.Arg207Cys Single submitter ⚠
p.Arg213Gln Single submitter ⚠
p.Arg216Gln Single submitter ⚠
p.Arg216Trp Single submitter ⚠
p.Arg21Gly Single submitter ⚠
p.Arg320Ser Single submitter ⚠
p.Arg442His Single submitter ⚠
p.Arg444Gln Single submitter ⚠
p.Arg466Cys Single submitter ⚠
p.Arg466His Single submitter ⚠
p.Arg498Gly Single submitter ⚠
p.Arg549Gln Single submitter ⚠
p.Arg598Lys Single submitter ⚠
p.Arg59Cys Single submitter ⚠
p.Arg663Cys Single submitter ⚠
p.Arg664Gln Single submitter ⚠
p.Arg664Trp Single submitter ⚠
p.Arg696His Single submitter ⚠
p.Arg736His Single submitter ⚠
p.Arg736Ser Single submitter ⚠
p.Arg767His Single submitter ⚠
p.Arg781Gln Single submitter ⚠
p.Arg782Cys Single submitter ⚠
p.Arg831Cys Single submitter ⚠
p.Asn129Lys Single submitter ⚠
p.Asn356Ser Single submitter ⚠
p.Asn74Ser Single submitter ⚠
p.Asp387Asn Single submitter ⚠
p.Asp443Gly Single submitter ⚠
p.Asp510Gly Single submitter ⚠
p.Asp55Gly Single submitter ⚠
p.Asp840Glu Single submitter ⚠
p.Gln206Glu Single submitter ⚠
p.Gln236Lys Single submitter ⚠
p.Gln24Arg Single submitter ⚠
p.Gln263His Single submitter ⚠
p.Gln276Arg Single submitter ⚠
p.Gln276Glu Single submitter ⚠
p.Gln303His Single submitter ⚠
p.Gln547Leu Single submitter ⚠
p.Gln548Lys Single submitter ⚠
p.Gln599Arg Single submitter ⚠
p.Gln635His Single submitter ⚠
p.Gln768His Single submitter ⚠
p.Gln776His Single submitter ⚠
p.Gln790Lys Single submitter ⚠
p.Gln86Arg Single submitter ⚠
p.Glu174Lys Single submitter ⚠
p.Glu214Gly Single submitter ⚠
p.Glu224Gly Single submitter ⚠
p.Glu251Asp Single submitter ⚠
p.Glu275Lys Single submitter ⚠
p.Glu366Ala Single submitter ⚠
p.Glu760Gly Single submitter ⚠
p.Glu818Lys Single submitter ⚠
p.Gly324Arg Single submitter ⚠
p.Gly594Arg Single submitter ⚠
p.Gly641Glu Single submitter ⚠
p.His145Gln Single submitter ⚠
p.His47Arg Single submitter ⚠
p.His763Gln Single submitter ⚠
p.Ile434Thr Single submitter ⚠
p.Ile512Val Single submitter ⚠
p.Ile533Val Single submitter ⚠
p.Ile654Leu Single submitter ⚠
p.Ile668Phe Single submitter ⚠
p.Ile727Thr Single submitter ⚠
p.Ile99Thr Single submitter ⚠
p.Leu260Val Single submitter ⚠
p.Leu284Arg Single submitter ⚠
p.Leu30Ile Single submitter ⚠
p.Leu321Phe Single submitter ⚠
p.Leu519Ser Single submitter ⚠
p.Leu691Ser Single submitter ⚠
p.Leu779Pro Single submitter ⚠
p.Leu794Trp Single submitter ⚠
p.Lys104Glu Single submitter ⚠
p.Lys261Glu Single submitter ⚠
p.Lys283Glu Single submitter ⚠
p.Lys325Thr Single submitter ⚠
p.Lys377Thr Single submitter ⚠
p.Lys433Arg Single submitter ⚠
p.Lys520Arg Single submitter ⚠
p.Lys554Arg Single submitter ⚠
p.Lys563Asn Single submitter ⚠
p.Lys632Gln Single submitter ⚠
p.Lys830Arg Single submitter ⚠
p.Met232Val Single submitter ⚠
p.Met279Lys Single submitter ⚠
p.Met379Val Single submitter ⚠
p.Met515Ile Single submitter ⚠
p.Met522Arg Single submitter ⚠
p.Met522Val Single submitter ⚠
p.Met61Arg Single submitter ⚠
p.Met686Ile Single submitter ⚠
p.Met686Thr Single submitter ⚠
p.Phe200Leu Single submitter ⚠
p.Phe684Ser Single submitter ⚠
p.Pro769His Single submitter ⚠
p.Ser212Cys Single submitter ⚠
p.Ser234Gly Single submitter ⚠
p.Ser538Pro Single submitter ⚠
p.Ser672Asn Single submitter ⚠
p.Ser94Phe Single submitter ⚠
p.Thr119Lys Single submitter ⚠
p.Thr119Met Single submitter ⚠
p.Thr159Arg Single submitter ⚠
p.Thr453Met Single submitter ⚠
p.Tyr501His Single submitter ⚠
p.Val10Leu Single submitter ⚠
p.Val128Ala Single submitter ⚠
p.Val359Ala Single submitter ⚠
p.Val49Leu Single submitter ⚠
p.Val637Leu Single submitter ⚠