Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158665 | SCV000208600 | pathogenic | not provided | 2012-05-24 | criteria provided, single submitter | clinical testing | p.Glu1555Gly (GAG>GGG): c.4664 A>G in exon 34 of the MYH7 gene (NM_000257.2). The Glu1555Gly mutation in the MYH7 gene has not been previously reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. Glu1555Gly results in a non-conservative amino acid substitution of a negatively charged Glutamic acid residue with a non-polar Glycine residue. Another mutation at the same residue (Glu1555Lys) has been reported in association with HCM, supporting the functional importance of this residue. The NHLBI ESP Exome Variant Server reports Glu1555Gly was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, Glu1555Gly in the MYH7 gene is interpreted to be a likely disease-causing mutation. The variant is found in HCM panel(s). |
OMIM | RCV003228795 | SCV003841182 | pathogenic | Myopathy, myosin storage, autosomal recessive | 2023-03-08 | no assertion criteria provided | literature only |