ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5462A>G (p.Glu1821Gly)

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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 RCV004733878 SCV005359141 uncertain significance MYH9-related disorder 2024-07-11 no assertion criteria provided clinical testing The MYH9 c.5462A>G variant is predicted to result in the amino acid substitution p.Glu1821Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) 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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