Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628947 | SCV000749855 | pathogenic | Hypertrophic cardiomyopathy | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Lys865 amino acid residue in MYH7. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21310275, 24793961, 27532257). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 524996). This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 16858239, 27247418). This variant is present in population databases (rs758891557, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 865 of the MYH7 protein (p.Lys865Arg). |
MGZ Medical Genetics Center | RCV002289917 | SCV002580579 | likely pathogenic | Hypertrophic cardiomyopathy 1 | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144402 | SCV003834074 | likely pathogenic | not provided | 2021-11-22 | criteria provided, single submitter | clinical testing |