Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000168890 | SCV000208547 | uncertain significance | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Color Diagnostics, |
RCV000771904 | SCV000904668 | uncertain significance | Cardiomyopathy | 2023-06-23 | criteria provided, single submitter | clinical testing | This missense variant replaces aspartic acid with asparagine at codon 1198 of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Mayo Clinic Laboratories, |
RCV000168890 | SCV002541606 | uncertain significance | not provided | 2022-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945251 | SCV004758659 | uncertain significance | MYH7-related condition | 2024-01-10 | criteria provided, single submitter | clinical testing | The MYH7 c.3592G>A variant is predicted to result in the amino acid substitution p.Asp1198Asn. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Different nucleotide substitutions affecting the same amino acid (p.Asp1198Tyr and p.Asp1198Gly) have been reported in individuals with hypertrophic cardiomyopathy (Table S1A, Walsh et al. 2017. PubMed ID: 27532257; Table S2, Burns et al. 2017. PubMed ID: 28790153). At this time, the clinical significance of the c.3592G>A (p.Asp1198Asn) variant is uncertain due to the absence of conclusive functional and genetic evidence. |