Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172048 | SCV000054828 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular 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. |