Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000608622 | SCV000713727 | uncertain significance | not specified | 2019-11-20 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Ile285Thr variant in MYH7 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant was predicted to be pathogenic using a computational tool clinically validated by our laboratory. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). Of note, this variant lies in the head region of the protein. Missense variants in this region have been reported and statistically indicated to be more likely to cause disease (Walsh 2016). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Ile285Thr variant is uncertain. ACMG/AMP Criteria applied: PM1, PM2, PP3. |