Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035748 | SCV000059399 | likely pathogenic | Primary dilated cardiomyopathy | 2018-04-25 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Blueprint Genetics | RCV000788457 | SCV000927580 | likely pathogenic | not provided | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586136 | SCV004296284 | uncertain significance | Hypertrophic cardiomyopathy | 2023-03-01 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 597 of the MYH7 protein (p.Asn597Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 24503780, 31931689; Invitae). ClinVar contains an entry for this variant (Variation ID: 42866). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function. 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. |