ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del)

dbSNP: rs2136563934
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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 RCV002037216 SCV002111224 likely pathogenic not provided 2021-10-08 criteria provided, single submitter clinical testing This variant disrupts the triple helix domain of COL2A1. Glycine residues within the Gly-Xaa-Yaa repeats of the triple helix domain are required for the structure and stability of fibrillar collagens (PMID: 7695699, 8218237, 19344236). In COL2A1, variants affecting these glycine residues are significantly enriched in individuals with disease (PMID: 9016532, 17078022) compared to the general population (ExAC). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1824_1832del, results in the deletion of 3 amino acid(s) of the COL2A1 protein (p.Lys608_Ala610del), but otherwise preserves the integrity of the reading frame.

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