ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.968T>A (p.Met323Lys)

gnomAD frequency: 0.00001  dbSNP: rs1380248932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566761 SCV001790328 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001566761 SCV002160448 uncertain significance not provided 2023-05-15 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 323 of the COL2A1 protein (p.Met323Lys). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1201423). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetics and Molecular Pathology, SA Pathology RCV002466686 SCV002761644 uncertain significance Stickler syndrome, type I, nonsyndromic ocular 2021-10-19 criteria provided, single submitter clinical testing The COL2A1 c.968T>A variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE (PM2) This variant is a single nucleotide change from a thymine to an adenine at position 968 which is predicted to change the methionine at position 323 in the protein to lysine. The variant is in exon 15/54 of the COL2A1 gene. The variant is in dbSNP (rs1380248932) but is rare in population databases (gnamAD 1/31368, 0 homozygotes) (PM2). The variant has been reported in ClinVar as VUS. The variant has not been reported in HGMD. Computational predictions are conflicting.

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