Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035994 | SCV000059646 | uncertain significance | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Labcorp Genetics |
RCV000471357 | SCV000546271 | likely pathogenic | Hypertrophic cardiomyopathy | 2024-05-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 237 of the MYH7 protein (p.Arg237Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 43099). 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 with a positive predictive value of 95%. This variant disrupts the p.Arg237 amino acid residue in MYH7. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19412328, 27532257, 28416588, 29666183; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Gene |
RCV000766650 | SCV000618119 | uncertain significance | not provided | 2024-08-21 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29300372, 27532257, 37652022) |
Ambry Genetics | RCV000617410 | SCV000736602 | uncertain significance | Cardiovascular phenotype | 2020-08-24 | criteria provided, single submitter | clinical testing | The c.710G>A (p.R237Q) alteration is located in exon 8 (coding exon 6) of the MYH7 gene. This alteration results from a G to A substitution at nucleotide position 710, causing the arginine (R) at amino acid position 237 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000766650 | SCV000924873 | uncertain significance | not provided | 2017-06-20 | no assertion criteria provided | provider interpretation |