Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158757 | SCV000208692 | pathogenic | not provided | 2013-08-21 | criteria provided, single submitter | clinical testing | p.Phe244Leu (F244L) TTC>CTC: c.730 T>C in exon 8 of the MYH7 gene (NM_000257.2). The Phe244Leu mutation in the MYH7 gene has been reported in association with HCM (Rayment I et al., 2005). Phe244Leu results in a semi-conservative amino acid substitution of large, bulky Phenylalanine with a smaller Leucine at a position that is conserved across species. Mutations in nearby residues (Arg243Cys, Arg243His, Lys246Gln, Phe247Leu) have been reported in association with HCM, further supporting the functional importance of this region of the protein. Furthermore, the Phe244Leu mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in MYH7 panel(s). |