Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Stanford Center for Inherited Cardiovascular Disease, |
RCV000223753 | SCV000280307 | uncertain significance | not specified | 2013-05-31 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Gly636Ser (c.1906G>A) in MYH7 This variant is also novel. It is a semi conservative amino acid substitution with a non polar Glycine replaced with a polar Serine. Additional variants associated with cardiomyopathy have been reported in nearby residues (p.Tyr624Asn, p.Lys637Glu, p.Ser642Leu) (Human Gene Mutation Database http://www.hgmd.org/). In silico analysis predicts the amino acid change to be damaging to protein structure and function. Glycine is highly conserved at this residue of the myosin heavy chain protein. |