ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.5775C>A (p.Asp1925Glu)

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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 RCV004729665 SCV005339879 uncertain significance MYH9-related disorder 2024-09-17 no assertion criteria provided clinical testing The MYH9 c.5775C>A variant is predicted to result in the amino acid substitution p.Asp1925Glu. To our knowledge, this variant has not been reported in the literature or in gnomAD, 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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