ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1906G>A (p.Gly636Ser) (rs876661371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Stanford Center for Inherited Cardiovascular Disease, Stanford University 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.

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