ClinVar

Description

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.Glu1455Lys (c.4363G>A) in the MYH7 gene This is a novel variant that has not been reported in the literature or seen by this lab. We have seen this in one patient with HCM and his father, who also has HCM, also has the variant. A polar, negatively charged Glutamic acid is replaced with a polar, positively charged Lysine. Glutamic acid is highly conserved at position 1455 across species. While this specific variant has not been reported, two nearby variants have been described in association with HCM–p.Ala1454Thr, p.Lys1459Asn (Perrot et al 2005, Van Driest et al 2004). p.Glu1455Lys was not detected in 300 presumably healthy control individuals of both Caucasian and African American ancestry, however these samples do not completely match the patient’s Iranian ancestry. Also not seen in 400 controls at Familion.