CCDC174 — 123 ClinVar variants
All ClinVar germline CCDC174 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Pathogenic · 18 Benign · 3 Benign/Likely benign · 21 Likely benign · 80 Uncertain significance
Full CCDC174 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCDC174 p.Asp395His
Uncertain significance
Multiple submitters
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
-
CCDC174 p.Phe29Ser
Uncertain significance
Multiple submitters
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
-
CCDC174 p.Arg174Leu
Uncertain significance
Single submitter
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- CCDC174 p.Arg215Cys Uncertain significance Single submitter
- CCDC174 p.Arg255Gln Uncertain significance Single submitter
-
CCDC174 p.Arg271Cys
Uncertain significance
Single submitter
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- CCDC174 p.Arg336His Uncertain significance Single submitter
- CCDC174 p.Arg336Leu Uncertain significance Single submitter
- CCDC174 p.Arg378Ser Uncertain significance Single submitter
- CCDC174 p.Arg64Gln Uncertain significance Single submitter
- CCDC174 p.Asn261Lys Uncertain significance Single submitter
- CCDC174 p.Asn48Asp Uncertain significance Single submitter
- CCDC174 p.Asn48Ser Uncertain significance Single submitter
- CCDC174 p.Asp133Gly Uncertain significance Single submitter
- CCDC174 p.Asp443Asn Uncertain significance Single submitter
- CCDC174 p.Gly310Ser Uncertain significance Single submitter
- CCDC174 p.Gly404Ala Uncertain significance Single submitter
- CCDC174 p.Ile118Val Uncertain significance Single submitter
- CCDC174 p.Ile291Val Uncertain significance Single submitter
- CCDC174 p.Ile73Asn Uncertain significance Single submitter
- CCDC174 p.Leu205Ile Uncertain significance Single submitter
- CCDC174 p.Lys308Arg Uncertain significance Single submitter
- CCDC174 p.Met186Val Uncertain significance Single submitter
- CCDC174 p.Met209Thr Uncertain significance Single submitter
- CCDC174 p.Pro329Ser Uncertain significance Single submitter
- CCDC174 p.Pro393Ser Uncertain significance Single submitter
- CCDC174 p.Pro421Ser Uncertain significance Single submitter
- CCDC174 p.Pro438Arg Uncertain significance Single submitter
- CCDC174 p.Pro7Ala Uncertain significance Single submitter
- CCDC174 p.Ser38Ala Uncertain significance Single submitter
- CCDC174 p.Thr334Ser Uncertain significance Single submitter
- CCDC174 p.Thr436Lys Uncertain significance Single submitter
- CCDC174 p.Thr47Ser Uncertain significance Single submitter
- CCDC174 p.Trp162Cys Uncertain significance Single submitter
- CCDC174 p.Val106Glu Uncertain significance Single submitter
- CCDC174 p.Val344Ala Uncertain significance Single submitter
- CCDC174 p.Val451Ile Uncertain significance Single submitter
- CCDC174 p.Val61Ile Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- CCDC174 p.Arg122His Benign Multiple submitters
- CCDC174 p.Arg174Cys Benign Multiple submitters
-
CCDC174 p.Pro158Ser
Uncertain significance
Multiple submitters
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- CCDC174 p.Thr436Met Likely benign Multiple submitters
- CCDC174 p.Ala12Val Uncertain significance Single submitter
- CCDC174 p.Ala384Val Uncertain significance Single submitter
- CCDC174 p.Arg122Ser Uncertain significance Single submitter
- CCDC174 p.Arg174His Uncertain significance Single submitter
- CCDC174 p.Arg228Met Uncertain significance Single submitter
- CCDC174 p.Arg239Trp Uncertain significance Single submitter
- CCDC174 p.Arg24Gln Uncertain significance Single submitter
- CCDC174 p.Arg281Gln Uncertain significance Single submitter
- CCDC174 p.Arg288Gln Uncertain significance Single submitter
- CCDC174 p.Arg336Cys Uncertain significance Single submitter
- CCDC174 p.Arg366Cys Uncertain significance Single submitter
- CCDC174 p.Arg366His Uncertain significance Single submitter
- CCDC174 p.Arg383Trp Uncertain significance Single submitter
- CCDC174 p.Asp142Asn Uncertain significance Single submitter
- CCDC174 p.Asp143Asn Uncertain significance Single submitter
- CCDC174 p.Asp143His Uncertain significance Single submitter
- CCDC174 p.Asp395Tyr Uncertain significance Single submitter
- CCDC174 p.Gln31His Uncertain significance Single submitter
- CCDC174 p.Glu126Ala Uncertain significance Single submitter
- CCDC174 p.Glu185Gly Uncertain significance Single submitter
- CCDC174 p.Glu240Gln Uncertain significance Single submitter
-
CCDC174 p.Glu363Asp
Uncertain significance
Single submitter
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- CCDC174 p.Ile238Val Uncertain significance Single submitter
- CCDC174 p.Leu111Val Uncertain significance Single submitter
- CCDC174 p.Leu15Val Uncertain significance Single submitter
- CCDC174 p.Lys25Arg Uncertain significance Single submitter
- CCDC174 p.Lys298Thr Uncertain significance Single submitter
- CCDC174 p.Met109Thr Uncertain significance Single submitter
- CCDC174 p.Met109Val Uncertain significance Single submitter
- CCDC174 p.Met304Thr Uncertain significance Single submitter
- CCDC174 p.Phe29Ile Uncertain significance Single submitter
- CCDC174 p.Pro181Ser Uncertain significance Single submitter
- CCDC174 p.Pro327Leu Likely benign Single submitter
- CCDC174 p.Pro446Arg Uncertain significance Single submitter
- CCDC174 p.Ser134Cys Uncertain significance Single submitter
- CCDC174 p.Ser159Ile Uncertain significance Single submitter
- CCDC174 p.Ser394Leu Uncertain significance Single submitter
- CCDC174 p.Tyr235Phe Uncertain significance Single submitter
- CCDC174 p.Val166Met Uncertain significance Single submitter
All CCDC174 variants
Pathogenic 1
- p.Ter468Trp No assertion criteria severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Benign 18
- c.308-55C>A Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- c.485+47G>A Multiple submitters
- c.485+83C>G Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- c.485+83C>T Multiple submitters
- c.581+140A>G Multiple submitters
- c.725-13A>G Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- c.819+33G>C Multiple submitters
- c.*167C>T Multiple submitters
- p.Arg122His Multiple submitters ⚠
- p.Arg174Cys Multiple submitters ⚠
- p.Lys257Thr Multiple submitters
- p.Pro392= Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- c.148-203del Single submitter
- c.248+182A>G Single submitter
- c.308-182dup Single submitter
- c.485+188ATAATTACA[2] Single submitter
- c.581+116ATTG[7] Single submitter
- c.581+140_581+141insTTGG Single submitter
Benign/Likely benign 3
- c.1106-10T>A Multiple submitters
- p.Pro44= Multiple submitters
- p.Val348= Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Likely benign 21
- p.Asp141= Multiple submitters
- p.Pro327= Multiple submitters
- p.Thr436Met Multiple submitters ⚠
- c.820-6G>T Single submitter
- p.Arg366= Single submitter
- p.Asp103Asn Single submitter
- p.His429= Single submitter
- p.Ile196Val Single submitter
- p.Leu15= Single submitter
- p.Leu183= Single submitter
- p.Leu79= Single submitter
- p.Phe41Leu Single submitter
- p.Pro232= Single submitter
- p.Pro327Leu Single submitter ⚠
- p.Ser159Asn Single submitter
- p.Ser412Asn Single submitter
- p.Thr450= Single submitter
- p.Val233Ile Single submitter
- p.Val466Met Single submitter
- c.248+10T>C No assertion criteria CCDC174-related disorder
- c.307+3A>G No assertion criteria CCDC174-related disorder
Uncertain significance 80
- p.Asp395His Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- p.Phe29Ser Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- p.Pro158Ser Multiple submitters severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- c.249-76C>T Single submitter
- p.Ala12Val Single submitter ⚠
- p.Ala384Val Single submitter ⚠
- p.Arg122Ser Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg174Leu Single submitter severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg228Met Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Arg255Gln Single submitter ⚠
- p.Arg271Cys Single submitter severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- p.Arg281Gln Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg336Cys Single submitter ⚠
- p.Arg336His Single submitter ⚠
- p.Arg336Leu Single submitter ⚠
- p.Arg366Cys Single submitter ⚠
- p.Arg366His Single submitter ⚠
- p.Arg378Ser Single submitter ⚠
- p.Arg383Trp Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Asn261Lys Single submitter ⚠
- p.Asn48Asp Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asp133Gly Single submitter ⚠
- p.Asp142Asn Single submitter ⚠
- p.Asp143Asn Single submitter ⚠
- p.Asp143His Single submitter ⚠
- p.Asp395Tyr Single submitter ⚠
- p.Asp443Asn Single submitter ⚠
- p.Gln31His Single submitter ⚠
- p.Gln423Ter Single submitter
- p.Glu126Ala Single submitter ⚠
- p.Glu185Gly Single submitter ⚠
- p.Glu240Gln Single submitter ⚠
- p.Glu363Asp Single submitter severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ⚠
- p.Gly231= Single submitter
- p.Gly310Ser Single submitter ⚠
- p.Gly404Ala Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile73Asn Single submitter ⚠
- p.Leu111Val Single submitter ⚠
- p.Leu15Val Single submitter ⚠
- p.Leu205Ile Single submitter ⚠
- p.Lys25Arg Single submitter ⚠
- p.Lys298Thr Single submitter ⚠
- p.Lys308Arg Single submitter ⚠
- p.Met109Thr Single submitter ⚠
- p.Met109Val Single submitter ⚠
- p.Met186Val Single submitter ⚠
- p.Met209Thr Single submitter ⚠
- p.Met304Thr Single submitter ⚠
- p.Phe29Ile Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro393Ser Single submitter ⚠
- p.Pro421Ser Single submitter ⚠
- p.Pro438Arg Single submitter ⚠
- p.Pro446Arg Single submitter ⚠
- p.Pro7Ala Single submitter ⚠
- p.Ser134Cys Single submitter ⚠
- p.Ser159Ile Single submitter ⚠
- p.Ser38Ala Single submitter ⚠
- p.Ser394Leu Single submitter ⚠
- p.Thr334Ser Single submitter ⚠
- p.Thr436Lys Single submitter ⚠
- p.Thr47Ser Single submitter ⚠
- p.Trp162Cys Single submitter ⚠
- p.Tyr235Phe Single submitter ⚠
- p.Val106Glu Single submitter ⚠
- p.Val166Met Single submitter ⚠
- p.Val344Ala Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val61Ile Single submitter ⚠