ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)

dbSNP: rs755987732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760438 SCV000890321 pathogenic not provided 2021-06-01 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 at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22499343, 21668896, 24127948, 27535533)
Invitae RCV000760438 SCV003523437 pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1362*) in the COL11A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A1 are known to be pathogenic (PMID: 20513134, 21035103, 23922384, 25240749, 32427345, 32756486). This variant is present in population databases (rs755987732, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with COL11A1-related conditions (PMID: 21668896). ClinVar contains an entry for this variant (Variation ID: 620141). For these reasons, this variant has been classified as Pathogenic.

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