ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.584C>T (p.Ala195Val)

gnomAD frequency: 0.00001  dbSNP: rs2017339450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756315 SCV001988549 uncertain significance not provided 2019-07-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
PreventionGenetics, part of Exact Sciences RCV004733371 SCV005359732 uncertain significance MYH9-related disorder 2024-04-29 no assertion criteria provided clinical testing The MYH9 c.584C>T variant is predicted to result in the amino acid substitution p.Ala195Val. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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