DCDC1 — 117 ClinVar variants
All ClinVar germline DCDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
1 Likely pathogenic · 29 Benign · 25 Likely benign · 62 Uncertain significance
Full DCDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DCDC1 p.Gln95His Uncertain significance Multiple submitters
- DCDC1 p.Ala147Glu Uncertain significance Single submitter
- DCDC1 p.Ala212Thr Uncertain significance Single submitter
- DCDC1 p.Ala212Val Uncertain significance Single submitter
- DCDC1 p.Arg1330Lys Uncertain significance Single submitter
- DCDC1 p.Arg285Lys Uncertain significance Single submitter
- DCDC1 p.Asn159Ser Uncertain significance Single submitter
- DCDC1 p.Asn80Ser Uncertain significance Single submitter
- DCDC1 p.Asp272Val Uncertain significance Single submitter
- DCDC1 p.Asp38Gly Uncertain significance Single submitter
- DCDC1 p.Gln1608Lys Uncertain significance Single submitter
- DCDC1 p.Gln306Arg Uncertain significance Single submitter
- DCDC1 p.Gln306Leu Uncertain significance Single submitter
- DCDC1 p.Gln61Arg Uncertain significance Single submitter
- DCDC1 p.Glu1137Gly Uncertain significance Single submitter
- DCDC1 p.Glu1483Lys Uncertain significance Single submitter
- DCDC1 p.Glu26Ala Uncertain significance Single submitter
- DCDC1 p.Gly142Ser Uncertain significance Single submitter
- DCDC1 p.His108Tyr Uncertain significance Single submitter
- DCDC1 p.Ile128Leu Uncertain significance Single submitter
- DCDC1 p.Ile284Thr Uncertain significance Single submitter
- DCDC1 p.Leu254Val Uncertain significance Single submitter
- DCDC1 p.Leu282Phe Uncertain significance Single submitter
- DCDC1 p.Leu341Phe Uncertain significance Single submitter
- DCDC1 p.Leu73Phe Uncertain significance Single submitter
- DCDC1 p.Leu82Phe Uncertain significance Single submitter
- DCDC1 p.Lys249Gln Uncertain significance Single submitter
- DCDC1 p.Lys277Glu Uncertain significance Single submitter
- DCDC1 p.Lys287Arg Uncertain significance Single submitter
- DCDC1 p.Lys319Glu Uncertain significance Single submitter
- DCDC1 p.Met304Thr Uncertain significance Single submitter
- DCDC1 p.Phe187Ser Uncertain significance Single submitter
- DCDC1 p.Phe216Leu Uncertain significance Single submitter
- DCDC1 p.Ser294Pro Uncertain significance Single submitter
- DCDC1 p.Ser85Thr Uncertain significance Single submitter
- DCDC1 p.Thr1460Ile Uncertain significance Single submitter
- DCDC1 p.Thr1579Ile Uncertain significance Single submitter
- DCDC1 p.Thr271Ala Uncertain significance Single submitter
- DCDC1 p.Thr69Ala Uncertain significance Single submitter
- DCDC1 p.Tyr933His Uncertain significance Single submitter
- DCDC1 p.Val137Ile Uncertain significance Single submitter
- DCDC1 p.Val260Ile Uncertain significance Single submitter
- DCDC1 p.Val88Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- DCDC1 p.Ala1431Thr Benign Multiple submitters
- DCDC1 p.Ser1701Pro Benign Multiple submitters
- DCDC1 p.Thr239Met Uncertain significance Multiple submitters
- DCDC1 p.Thr317Ala Uncertain significance Multiple submitters
- DCDC1 p.Trp1567Cys Benign Multiple submitters
- DCDC1 p.Ala178Val Uncertain significance Single submitter
- DCDC1 p.Ala188Ser Uncertain significance Single submitter
- DCDC1 p.Arg135Ile Uncertain significance Single submitter
- DCDC1 p.Arg213Thr Uncertain significance Single submitter
- DCDC1 p.Arg276Trp Uncertain significance Single submitter
- DCDC1 p.Arg344Gly Uncertain significance Single submitter
- DCDC1 p.Arg978Gln Uncertain significance Single submitter
- DCDC1 p.Asn982Lys Uncertain significance Single submitter
- DCDC1 p.Gly220Ser Uncertain significance Single submitter
- DCDC1 p.Phe299Leu Uncertain significance Single submitter
- DCDC1 p.Pro334Gln Uncertain significance Single submitter
- DCDC1 p.Ser1372Leu Uncertain significance Single submitter
- DCDC1 p.Ser283Tyr Uncertain significance Single submitter
- DCDC1 p.Tyr339Asn Uncertain significance Single submitter
- DCDC1 p.Val313Met Uncertain significance Single submitter
-
DCDC1 p.Asn885Asp
Likely benign
No assertion criteria
DCDC1-related disorder
-
DCDC1 p.Asp652Gly
Likely benign
No assertion criteria
DCDC1-related disorder
-
DCDC1 p.Leu1060Phe
Benign
No assertion criteria
DCDC1-related disorder
-
DCDC1 p.Ser752Ala
Benign
No assertion criteria
DCDC1-related disorder
All DCDC1 variants
Likely pathogenic 1
- p.Cys1699Ter Single submitter Susceptibility to severe COVID-19
Benign 29
- c.591+13C>T Multiple submitters
- p.Ala1431Thr Multiple submitters ⚠
- p.Glu200= Multiple submitters
- p.Leu224= Multiple submitters
- p.Lys1494Arg Multiple submitters
- p.Ser1701Pro Multiple submitters ⚠
- p.Trp1567Cys Multiple submitters ⚠
- p.Val83Met Multiple submitters head and neck cancer
- c.1054+2435A>G Single submitter
- c.592-18C>T Single submitter
- c.960+13T>C Single submitter
- p.Ala178= Single submitter
- p.Glu1563Lys Single submitter
- p.Glu7Gly Single submitter
- p.Thr196= Single submitter
- c.2298+8C>T No assertion criteria DCDC1-related disorder
- c.2716-10C>A No assertion criteria DCDC5-related condition
- c.5234-7_5234-6del No assertion criteria DCDC5-related condition
- p.Arg864Ser No assertion criteria DCDC1-related disorder
- p.Gln770Glu No assertion criteria DCDC1-related disorder
- p.Glu1240Lys No assertion criteria DCDC5-related condition
- p.Leu1013= No assertion criteria DCDC5-related condition
- p.Leu1060Phe No assertion criteria DCDC1-related disorder ⚠
- p.Lys1570= No assertion criteria DCDC5-related condition
- p.Met553Val No assertion criteria DCDC1-related disorder
- p.Phe556fs No assertion criteria DCDC1-related disorder
- p.Ser752Ala No assertion criteria DCDC1-related disorder ⚠
- p.Thr486Met No assertion criteria DCDC1-related disorder
- p.Thr831Asn No assertion criteria DCDC1-related disorder
Likely benign 25
- c.165-15C>A Single submitter
- c.754+9G>T Single submitter
- c.961-9C>T Single submitter
- p.Ala2Thr Single submitter
- p.Arg158= Single submitter
- p.Arg276Gln Single submitter
- p.Arg963Trp Single submitter
- p.Asp219= Single submitter
- p.Ile1364Val Single submitter
- p.Leu163= Single submitter
- p.Thr239= Single submitter
- c.164+3A>G No assertion criteria DCDC1-related disorder
- c.1983+10T>C No assertion criteria DCDC1-related disorder
- c.5233+7A>G No assertion criteria DCDC5-related condition
- c.961-10dup No assertion criteria DCDC1-related disorder
- p.Ala684= No assertion criteria DCDC1-related disorder
- p.Ala731= No assertion criteria DCDC1-related disorder
- p.Asn885Asp No assertion criteria DCDC1-related disorder ⚠
- p.Asp1012= No assertion criteria DCDC5-related condition
- p.Asp652Gly No assertion criteria DCDC1-related disorder ⚠
- p.Gln539Arg No assertion criteria DCDC1-related disorder
- p.Gly956Val No assertion criteria DCDC5-related condition
- p.Leu206= No assertion criteria DCDC1-related disorder
- p.Thr965Met No assertion criteria DCDC5-related condition
- p.Tyr474Cys No assertion criteria DCDC1-related disorder
Uncertain significance 62
- p.Gln95His Multiple submitters ⚠
- p.Thr239Met Multiple submitters ⚠
- p.Thr317Ala Multiple submitters ⚠
- c.1054+2431C>T Single submitter
- c.755-15A>G Single submitter
- p.Ala147Glu Single submitter ⚠
- p.Ala178Val Single submitter ⚠
- p.Ala188Ser Single submitter ⚠
- p.Ala212Thr Single submitter ⚠
- p.Ala212Val Single submitter ⚠
- p.Arg1330Lys Single submitter ⚠
- p.Arg135Ile Single submitter ⚠
- p.Arg213Thr Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg285Lys Single submitter ⚠
- p.Arg344Gly Single submitter ⚠
- p.Arg978Gln Single submitter ⚠
- p.Asn159Ser Single submitter ⚠
- p.Asn80Ser Single submitter ⚠
- p.Asn982Lys Single submitter ⚠
- p.Asp272Val Single submitter ⚠
- p.Asp38Gly Single submitter ⚠
- p.Gln1608Lys Single submitter ⚠
- p.Gln306Arg Single submitter ⚠
- p.Gln306Leu Single submitter ⚠
- p.Gln61Arg Single submitter ⚠
- p.Glu1137Gly Single submitter ⚠
- p.Glu1483Lys Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Gly142Ser Single submitter ⚠
- p.Gly220Ser Single submitter ⚠
- p.His108Tyr Single submitter ⚠
- p.Ile128Leu Single submitter ⚠
- p.Ile284Thr Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Leu282Phe Single submitter ⚠
- p.Leu341Phe Single submitter ⚠
- p.Leu73Phe Single submitter ⚠
- p.Leu82Phe Single submitter ⚠
- p.Lys249Gln Single submitter ⚠
- p.Lys277Glu Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Lys319Glu Single submitter ⚠
- p.Met304Thr Single submitter ⚠
- p.Phe187Ser Single submitter ⚠
- p.Phe216Leu Single submitter ⚠
- p.Phe299Leu Single submitter ⚠
- p.Pro334Gln Single submitter ⚠
- p.Ser1372Leu Single submitter ⚠
- p.Ser283Tyr Single submitter ⚠
- p.Ser294Pro Single submitter ⚠
- p.Ser85Thr Single submitter ⚠
- p.Thr1460Ile Single submitter ⚠
- p.Thr1579Ile Single submitter ⚠
- p.Thr271Ala Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Tyr339Asn Single submitter ⚠
- p.Tyr933His Single submitter ⚠
- p.Val137Ile Single submitter ⚠
- p.Val260Ile Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val88Ile Single submitter ⚠