ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn)

dbSNP: rs1291318209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925946 SCV002180087 benign not provided 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001925946 SCV005334016 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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