Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002549215 | SCV002959578 | pathogenic | Ehlers-Danlos syndrome, classic type, 1 | 2021-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 812725). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu284Lysfs*3) 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). |
NIHR Bioresource Rare Diseases, |
RCV001003518 | SCV001161823 | likely pathogenic | Ehlers-Danlos syndrome, classic type | no assertion criteria provided | research |