ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1481G>A (p.Arg494His)

gnomAD frequency: 0.00002  dbSNP: rs766574999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001888025 SCV002122767 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001888025 SCV003927747 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing 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); In silico analysis supports that this missense variant does not alter protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV001888025 SCV005074622 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing COL2A1: PM5:Supporting

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