Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035395 | SCV000059043 | uncertain significance | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | The Phe473Ser variant in MYBPC3 has been identified by our laboratory in 1 Cauca sian adult with HCM 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. In summary, the clinical significance of the Phe473Ser variant is uncertain. |
Gene |
RCV000158083 | SCV000208018 | uncertain significance | not provided | 2020-01-13 | criteria provided, single submitter | clinical testing | Reported in ClinVar as a variant of uncertain significance by another clinical laboratory that identified this variant in an individual with HCM (ClinVar Variant ID#42529; Landrum et al., 2016; Walsh et al., 2017); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27532257) |
Invitae | RCV001069692 | SCV001234879 | uncertain significance | Hypertrophic cardiomyopathy | 2023-05-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 42529). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257, 32746448, 33782553). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 473 of the MYBPC3 protein (p.Phe473Ser). |