G342R (p.Gly342Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G342R (p.Gly342Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G342R (p.Gly342Arg) variant details
- p.Gly342Arg
- rs794728040
- ClinGen CA004027
- ClinVar RCV000505729
- ClinVar RCV001051687
- Pathogenic/Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4; Familial thoracic aortic aneurysm
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4; Familial thoracic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)