ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2095-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003740521 SCV004562530 likely pathogenic not provided 2023-09-14 criteria provided, single submitter clinical testing The COL2A1 c.2095-1G>A variant is reported in the literature in an individual affected with Stickler syndrome (Hoornaert 2010). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant disrupts the canonical splice acceptor site of intron 32, which is likely to negatively impact gene function. Based on available information, this variant is considered to be likely pathogenic. References: Hoornaert KP et al. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010 Aug;18(8):872-80. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881. PMID: 20179744.
GeneDx RCV003740521 SCV005078859 pathogenic not provided 2023-12-26 criteria provided, single submitter clinical testing Damages or destroys the splice acceptor site in intron 32, and is expected to cause abnormal gene splicing; if the splice outcome is exon skip, the loss of the encoded residues in the triple helical region is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20179744)

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