Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035962 | SCV000059614 | uncertain significance | not specified | 2018-11-01 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000158697 | SCV000208632 | uncertain significance | not provided | 2024-05-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28606303, 20474083, 22464770, 27532257, 24503780, 37652022) |
Labcorp Genetics |
RCV000471537 | SCV000546194 | uncertain significance | Hypertrophic cardiomyopathy | 2016-05-20 | criteria provided, single submitter | clinical testing | In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 22464770). ClinVar contains an entry for this variant (Variation ID: 43067). This variant is not present in population databases (rs397516247, ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1794 of the MYH7 protein (p.Gln1794Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770470 | SCV000901913 | likely pathogenic | Cardiomyopathy | 2023-06-28 | criteria provided, single submitter | clinical testing |