Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826179 | SCV000967718 | likely pathogenic | Hypertrophic cardiomyopathy | 2018-09-07 | criteria provided, single submitter | clinical testing | The c.773-2A>T variant in MYBPC3 has not been reported in any individuals with h ypertrophic cardiomyopathy (HCM) or in large population studies. This variant oc curs in the invariant region (+/- 1,2) of the splice consensus sequence and is p redicted to cause altered splicing leading to an abnormal or absent protein. Het erozygous loss of function of the MYBPC3 gene is an established disease mechanis m in autosomal dominant HCM. In summary, although additional studies are require d to fully establish its clinical significance, the c.773-2A>T variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1, PM2. |