ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala)

dbSNP: rs200714763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172048 SCV000054828 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609062 SCV000713833 uncertain significance not specified 2018-01-12 criteria provided, single submitter clinical testing The p.Thr1019Ala variant in MYH7 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/111714 of European chromosome s by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200714763) and in one person in a whole exome sequencing study of indivi duals selected for having no personal or family history of arrhythmia, cardiomyo pathy, or sudden death (Ng 2013). Computational prediction tools and conservatio n analysis suggest that the p.Thr1019Ala variant may not impact the protein, tho ugh this information is not predictive enough to rule out pathogenicity. In summ ary, the clinical significance of the p.Thr1019Ala variant is uncertain. ACMG/AM P Criteria applied: PM2; BP4.

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