ClinVar

Description

Variant summary: MYH7 c.2997delG (p.Gln1000LysfsX21) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are not commonly known mechanisms for disease. The variant was absent in 251492 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2997delG has been reported in the literature in one individual affected with left ventricular noncompaction cardiomyopathy (Mehaney_2021). This report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.