Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851866 | SCV002299397 | likely pathogenic | Hypertrophic cardiomyopathy | 2022-09-01 | criteria provided, single submitter | clinical testing | 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. This variant is found within a region of MYH7 between codons 181 and 937 that contains the majority of the myosin head domain. Missense variants in this region have been shown to be significantly overrepresented in individuals with hypertrophic cardiomyopathy (PMID: 27532257). 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: 14106). This missense change has been observed in individuals with autosomal dominant hypertrophic cardiomyopathy (PMID: 7909436, 20975235, 24111713, 26178432, 29398688; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 935 of the MYH7 protein (p.Glu935Lys). |
| OMIM | RCV000015162 | SCV000035419 | pathogenic | Hypertrophic cardiomyopathy 1 | 1994-04-15 | no assertion criteria provided | literature only |