ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)

dbSNP: rs1833258579
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002241567 SCV001420989 pathogenic Ehlers-Danlos syndrome, classic type, 1 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg66*) in the COL5A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL5A1 are known to be pathogenic (PMID: 23587214). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Ehlers-Danlos syndrome (PMID: 28485813). ClinVar contains an entry for this variant (Variation ID: 971716). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002241567 SCV002512496 pathogenic Ehlers-Danlos syndrome, classic type, 1 2021-06-28 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate
Fulgent Genetics, Fulgent Genetics RCV002499430 SCV002811688 likely pathogenic Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2022-03-04 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.