ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5089C>T (p.Arg1697Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004538986 SCV004108719 uncertain significance MYH9-related disorder 2023-06-22 criteria provided, single submitter clinical testing The MYH9 c.5089C>T variant is predicted to result in the amino acid substitution p.Arg1697Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0051% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-36681972-G-A). 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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