CRTC1 — 81 ClinVar variants
All ClinVar germline CRTC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
2 Benign · 6 Likely benign · 73 Uncertain significance
Full CRTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRTC1 p.Ala142Val Uncertain significance Single submitter
- CRTC1 p.Ala238Thr Uncertain significance Single submitter
- CRTC1 p.Ala343Thr Uncertain significance Single submitter
- CRTC1 p.Ala358Gly Uncertain significance Single submitter
- CRTC1 p.Ala376Thr Uncertain significance Single submitter
- CRTC1 p.Ala376Val Uncertain significance Single submitter
-
CRTC1 p.Ala402Thr
Uncertain significance
Single submitter
CRTC1-related condition
- CRTC1 p.Arg321Gly Uncertain significance Single submitter
- CRTC1 p.Arg391His Uncertain significance Single submitter
- CRTC1 p.Asn528Ser Uncertain significance Single submitter
- CRTC1 p.Asp122Glu Uncertain significance Single submitter
- CRTC1 p.Asp129Asn Uncertain significance Single submitter
- CRTC1 p.Gln368Pro Uncertain significance Single submitter
- CRTC1 p.Gln445Arg Uncertain significance Single submitter
- CRTC1 p.Gln59Pro Uncertain significance Single submitter
- CRTC1 p.Gln81Pro Uncertain significance Single submitter
- CRTC1 p.Glu107Asp Uncertain significance Single submitter
- CRTC1 p.Gly112Ser Uncertain significance Single submitter
- CRTC1 p.Gly294Ser Uncertain significance Single submitter
- CRTC1 p.Gly310Ala Uncertain significance Single submitter
- CRTC1 p.Gly542Arg Uncertain significance Single submitter
- CRTC1 p.Gly583Arg Uncertain significance Single submitter
- CRTC1 p.Ile236Thr Uncertain significance Single submitter
- CRTC1 p.Lys201Glu Uncertain significance Single submitter
- CRTC1 p.Met434Val Uncertain significance Single submitter
- CRTC1 p.Met493Val Uncertain significance Single submitter
- CRTC1 p.Met510Val Uncertain significance Single submitter
- CRTC1 p.Pro162Leu Uncertain significance Single submitter
- CRTC1 p.Pro261Leu Uncertain significance Single submitter
- CRTC1 p.Pro393Ser Uncertain significance Single submitter
- CRTC1 p.Pro394Ser Uncertain significance Single submitter
- CRTC1 p.Pro426Arg Uncertain significance Single submitter
- CRTC1 p.Pro426Gln Uncertain significance Single submitter
- CRTC1 p.Pro426Leu Uncertain significance Single submitter
- CRTC1 p.Pro432Ser Uncertain significance Single submitter
- CRTC1 p.Pro454Gln Uncertain significance Single submitter
- CRTC1 p.Pro623Ser Uncertain significance Single submitter
- CRTC1 p.Ser317Gly Uncertain significance Single submitter
- CRTC1 p.Ser440Leu Uncertain significance Single submitter
- CRTC1 p.Ser519Gly Uncertain significance Single submitter
- CRTC1 p.Ser547Leu Uncertain significance Single submitter
- CRTC1 p.Thr184Lys Uncertain significance Single submitter
- CRTC1 p.Thr538Met Uncertain significance Single submitter
- CRTC1 p.Thr628Asn Uncertain significance Single submitter
- CRTC1 p.Val175Met Uncertain significance Single submitter
- CRTC1 p.Val417Ile Uncertain significance Single submitter
- CRTC1 p.Val483Met Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- CRTC1 p.Ala282Thr Uncertain significance Single submitter
- CRTC1 p.Ala282Val Uncertain significance Single submitter
- CRTC1 p.Ala532Thr Uncertain significance Single submitter
- CRTC1 p.Arg307Cys Uncertain significance Single submitter
- CRTC1 p.Asp598Asn Uncertain significance Single submitter
- CRTC1 p.Gln475Lys Uncertain significance Single submitter
- CRTC1 p.Gln497Arg Uncertain significance Single submitter
- CRTC1 p.Gln497Glu Uncertain significance Single submitter
- CRTC1 p.Gly585Cys Uncertain significance Single submitter
- CRTC1 p.Leu37Val Uncertain significance Single submitter
- CRTC1 p.Lys178Asn Uncertain significance Single submitter
- CRTC1 p.Met136Arg Uncertain significance Single submitter
- CRTC1 p.Met612Leu Uncertain significance Single submitter
- CRTC1 p.Pro380Ser Uncertain significance Single submitter
- CRTC1 p.Pro383Leu Uncertain significance Single submitter
- CRTC1 p.Pro394Leu Uncertain significance Single submitter
- CRTC1 p.Pro412Leu Uncertain significance Single submitter
- CRTC1 p.Ser145Asn Uncertain significance Single submitter
- CRTC1 p.Ser326Leu Uncertain significance Single submitter
- CRTC1 p.Ser424Tyr Uncertain significance Single submitter
- CRTC1 p.Ser530Leu Uncertain significance Single submitter
- CRTC1 p.Thr161Met Uncertain significance Single submitter
- CRTC1 p.Thr233Ile Uncertain significance Single submitter
- CRTC1 p.Tyr489Cys Uncertain significance Single submitter
All CRTC1 variants
Benign 2
- c.539-10A>G Multiple submitters
- p.Ala282= Multiple submitters
Likely benign 6
- p.Ser48= Multiple submitters
- p.Ser580= Multiple submitters
- p.Ala439Thr Single submitter
- p.Met136Val Single submitter
- p.Pro141= Single submitter
- p.Pro225= Single submitter
Uncertain significance 73
- c.243+1085A>G Single submitter
- c.243+1113C>T Single submitter
- p.Ala142Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala343Thr Single submitter ⚠
- p.Ala358Gly Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala376Val Single submitter ⚠
- p.Ala402Thr Single submitter CRTC1-related condition ⚠
- p.Ala532Thr Single submitter ⚠
- p.Arg307Cys Single submitter ⚠
- p.Arg321Gly Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asp122Glu Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp598Asn Single submitter ⚠
- p.Gln368Pro Single submitter ⚠
- p.Gln445Arg Single submitter ⚠
- p.Gln475Lys Single submitter ⚠
- p.Gln497Arg Single submitter ⚠
- p.Gln497Glu Single submitter ⚠
- p.Gln59Pro Single submitter ⚠
- p.Gln81Pro Single submitter ⚠
- p.Glu107Asp Single submitter ⚠
- p.Gly112Ser Single submitter ⚠
- p.Gly294Ser Single submitter ⚠
- p.Gly310Ala Single submitter ⚠
- p.Gly542Arg Single submitter ⚠
- p.Gly583Arg Single submitter ⚠
- p.Gly585Cys Single submitter ⚠
- p.Ile236Thr Single submitter ⚠
- p.Leu37Val Single submitter ⚠
- p.Lys178Asn Single submitter ⚠
- p.Lys201Glu Single submitter ⚠
- p.Met136Arg Single submitter ⚠
- p.Met434Val Single submitter ⚠
- p.Met493Val Single submitter ⚠
- p.Met510Val Single submitter ⚠
- p.Met612Leu Single submitter ⚠
- p.Pro162Leu Single submitter ⚠
- p.Pro261Leu Single submitter ⚠
- p.Pro380Ser Single submitter ⚠
- p.Pro383Leu Single submitter ⚠
- p.Pro393Ser Single submitter ⚠
- p.Pro394Leu Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro412Leu Single submitter ⚠
- p.Pro426Arg Single submitter ⚠
- p.Pro426Gln Single submitter ⚠
- p.Pro426Leu Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro454Gln Single submitter ⚠
- p.Pro623Ser Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Ser317Gly Single submitter ⚠
- p.Ser326Leu Single submitter ⚠
- p.Ser424Tyr Single submitter ⚠
- p.Ser440Leu Single submitter ⚠
- p.Ser519Gly Single submitter ⚠
- p.Ser530Leu Single submitter ⚠
- p.Ser547Leu Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr184Lys Single submitter ⚠
- p.Thr233Ile Single submitter ⚠
- p.Thr538Met Single submitter ⚠
- p.Thr628Asn Single submitter ⚠
- p.Tyr489Cys Single submitter ⚠
- p.Val175Met Single submitter ⚠
- p.Val417Ile Single submitter ⚠
- p.Val483Met Single submitter ⚠