Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035948 | SCV000059599 | likely pathogenic | Hypertrophic cardiomyopathy | 2018-11-20 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Invitae | RCV000035948 | SCV003442321 | uncertain significance | Hypertrophic cardiomyopathy | 2022-07-28 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of MYH7-related conditions (PMID: 25611685, 27532257). ClinVar contains an entry for this variant (Variation ID: 43054). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 169 of the MYH7 protein (p.Arg169Lys). |