ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter)

dbSNP: rs1554226209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497961 SCV000590451 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Has been identified in trans with the c.336_340delinsG variant, in a 2 year-old with clinical features of otospondylomegaepiphyseal dysplasia (OSMED) (Selvam et al., 2020); Not observed at significant frequency 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: 32341816)
Invitae RCV000497961 SCV004375901 pathogenic not provided 2023-08-23 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: 432697). This premature translational stop signal has been observed in individual(s) with otospondylomegaepiphyseal dysplasia (PMID: 32341816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg64*) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229).

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