Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156881 | SCV000206602 | uncertain significance | not specified | 2014-11-06 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The p.Asn602Asp variant in MYH7 has not been previously reported in individuals with cardiomyop athy or in large population studies. Asparagine (Asn) at position 602 is highly conserved in evolution and the change to aspartic acid (Asp) was predicted to be pathogenic using a computational tool clinically validated by our laboratory. T his tool's pathogenic prediction is estimated to be correct 94% of the time (Jor dan 2011). In summary, while there is some suspicion for a pathogenic role, the clinical significance of the p.Asn602Asp variant is uncertain. |