Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579130 | SCV000680706 | pathogenic | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 20179744, 8434604, 15895462, 26443184) |
Invitae | RCV000579130 | SCV001585159 | pathogenic | not provided | 2023-07-19 | 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: 17360). This variant is also known as p.Arg9X. This premature translational stop signal has been observed in individual(s) with clinical features of Stickler syndrome (PMID: 8434604). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg209*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). |
OMIM | RCV000018904 | SCV000039188 | pathogenic | Stickler syndrome type 1 | 1993-01-01 | no assertion criteria provided | literature only |