ClinVar Miner

Submissions for variant NM_002473.6(MYH9):c.130G>C (p.Ala44Pro)

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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 RCV004733899 SCV005361728 likely pathogenic MYH9-related disorder 2024-08-22 no assertion criteria provided clinical testing The MYH9 c.130G>C variant is predicted to result in the amino acid substitution p.Ala44Pro. This variant was reported in two individuals with MYH9-related disease (Saposnik et al. 2014. PubMed ID: 25077172; Natesirinilkul et al. 2021. PubMed ID: 33855781; Niwa et al. 2024. PubMed ID: 38827217). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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