Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035725 | SCV000059376 | uncertain significance | not specified | 2019-03-13 | criteria provided, single submitter | clinical testing | The p.Leu476Val variant in MYH7 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. Of note, this variant lies in the head region of the protein. Missense variants in this region have been reported and statistically indicated to be more likely to cause disease (Walsh 2016). In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM1, PM2. |
Gene |
RCV001775550 | SCV002013761 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | Reported in one patient in association with HCM (Walsh et al., 2017); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 42845; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27532257) |