ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2219del (p.Pro740fs)

dbSNP: rs1565677720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001960634 SCV002230073 pathogenic not provided 2023-05-11 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: 1454288). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro740Leufs*48) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002243492 SCV002515861 pathogenic Stickler syndrome type 1 2022-05-20 criteria provided, single submitter clinical testing

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