ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.835G>A (p.Ala279Thr)

dbSNP: rs397516270
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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 RCV000036006 SCV000059658 uncertain significance not specified 2019-08-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ala279Thr variant in MYH7 has been in 1 individual with DCM and segregated with disease in 4 affected family members (LMM data, Pugh 2014, Walsh 2017). 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 2017). In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM1, PM2, PP1.

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