ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

dbSNP: rs121912866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726311 SCV000343669 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing
GeneDx 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

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