ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4813C>T (p.Arg1605Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003667821 SCV004391085 pathogenic not provided 2023-08-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg1605*) 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 has not been reported in the literature in individuals affected with COL11A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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