ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.254del (p.Pro85fs)

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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 RCV003690692 SCV004446582 pathogenic not provided 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro85Glnfs*21) 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).

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