Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158175 | SCV000208110 | uncertain significance | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Laboratory for Molecular Medicine, |
RCV000158175 | SCV000712383 | uncertain significance | not provided | 2019-04-05 | criteria provided, single submitter | clinical testing | The p.Pro16Ser variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/47636 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs730880573). Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Pro16Ser variant is uncertain. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005400710 | SCV000987400 | uncertain significance | Cardiovascular phenotype | 2025-04-08 | criteria provided, single submitter | clinical testing | PM2, PS4_supp |
Labcorp Genetics |
RCV001352035 | SCV001546558 | uncertain significance | Hypertrophic cardiomyopathy | 2024-12-17 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 16 of the MYBPC3 protein (p.Pro16Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 180979). 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. 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. |
Fulgent Genetics, |
RCV002505187 | SCV002815147 | uncertain significance | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2022-04-14 | criteria provided, single submitter | clinical testing |