ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)

dbSNP: rs1592196744
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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 RCV002535748 SCV003201115 pathogenic not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1215Alafs*12) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 635549). For these reasons, this variant has been classified as Pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000787022 SCV000925932 pathogenic Stickler syndrome type 1 2019-02-27 no assertion criteria provided clinical testing

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