ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile)

gnomAD frequency: 0.00002  dbSNP: rs759822181
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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 RCV001979459 SCV002255233 benign not provided 2024-09-27 criteria provided, single submitter clinical testing
GeneDx RCV001979459 SCV003919609 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the Y 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 Y position is not a common mechanism of disease (HGMD)

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