Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156585 | SCV000206304 | uncertain significance | not specified | 2014-06-04 | criteria provided, single submitter | clinical testing | The 4175+1G>C variant in MYH6 has not been reported in individuals with cardiomy opathy or in large population studies. This variant occurs in the invariant regi on (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Splice variants in MYH6 have been reported in individuals with HCM (Niimura 1998) and ASD (Granados-Riveron 2 010) though the overall evidence implicating the MYH6 gene in cardiomyopathy is still limited. Additional studies are required to fully establish the clinical s ignificance of the 4175+1G>C variant. |