ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) (rs121912869)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 2020-02-15 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Stickler syndrome (PMID: 8434604). This amino acid change is also known as p.Arg9X in the literature. ClinVar contains an entry for this variant (Variation ID: 17360). Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018904 SCV000039188 pathogenic Stickler syndrome type 1 1993-01-01 no assertion criteria provided literature only

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