ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])

dbSNP: rs2136528419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002511097 SCV002820794 pathogenic not provided 2025-03-17 criteria provided, single submitter clinical testing In-frame deletion of 3 of amino acidsin a non-repeat region predicted to critically alter the protein; Occurs in the triple helical domain and is predicted to remove canonical Gly-X-Y repeat units; an in-frame deletion variant in this region is expected to disrupt normal protein folding and function, and this is an established mechanism of disease; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34416374)
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822886 SCV001762459 likely pathogenic Stickler syndrome type 1 2021-07-01 no assertion criteria provided clinical testing

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