ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447778 SCV004175523 likely pathogenic Achondrogenesis type II 2023-06-29 criteria provided, single submitter clinical testing The COL2A1 c.2293G>A variant is classified as Likely Pathogenic (PM1, PM2, PP3, PP4) The COL2A1 c.2293G>A variant is a single nucleotide change in exon 34/54 of the COL2A1 gene, which is predicted to change the amino acid glycine at position 765 in the protein to serine. This variant is absent from population databases (PM2). This variant is located in the conserved PMID: 15895462, PMID: 26443184, PMID: 26626311 ( PMID: 15895462, PMID: 26443184, PMID: 26626311. ) (PM1). Computational predictions support a deleterious effect on the gene or gene product (PP3). The clinical features of this case are highly specific for the COL2A1, the family history is consistent with the mode of inheritance of this condition and this patient has a well-defined syndrome with little overlap with other clinical presentations (PP4). This variant has not been reported in dbSNP, ClinVar or HGMD.

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