ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.422A>G (p.Lys141Arg)

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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 RCV004544166 SCV004797967 uncertain significance MYH9-related disorder 2023-12-07 no assertion criteria provided clinical testing The MYH9 c.422A>G variant is predicted to result in the amino acid substitution p.Lys141Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. 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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