ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2191C>G (p.Pro731Ala)

dbSNP: rs727504299
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154322 SCV000203984 uncertain significance not specified 2019-08-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Pro731Ala variant in MYH7 has been identified in 1 individual with HCM (LMM data). It was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. Of note, this variant lies in the head region of the protein and missense variants in this region are statistically more likely to be disease-associated (Walsh 2016). Additional variants at the same position (p.Pro731Ser, p.Pro731Leu) have been reported in individuals with HCM; although, their clinical significance is uncertain. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM1.

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