Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726311 | SCV000343669 | pathogenic | not provided | 2018-02-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726311 | SCV001826062 | pathogenic | not provided | 2022-02-18 | criteria provided, single submitter | clinical testing | Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 17355; ClinVar); Not observed in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 26747767, 1677770, 32756486, 31758797) |
Invitae | RCV000726311 | SCV002236786 | pathogenic | not provided | 2023-12-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg932*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant Stickler syndrome and/or high myopia (PMID: 1677770, 12544472, 26747767). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 17355). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000018899 | SCV000039183 | pathogenic | Stickler syndrome type 1 | 1991-08-01 | no assertion criteria provided | literature only |