Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035367 | SCV000059015 | uncertain significance | not specified | 2019-08-02 | criteria provided, single submitter | clinical testing | The p.Gly347Ser variant in MYBPC3 has been identified in 1 individual with DCM (LMM data) and 3/112736 European chromosomes by gnomAD (https://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2. |
Invitae | RCV001344496 | SCV001538554 | uncertain significance | Hypertrophic cardiomyopathy | 2023-01-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 347 of the MYBPC3 protein (p.Gly347Ser). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 42502). This missense change has been observed in individual(s) with clinical features of hypertrophic cardiomyopathy (PMID: 33673806). This variant is present in population databases (rs397515884, gnomAD 0.003%). |
Prevention |
RCV003390722 | SCV004119726 | uncertain significance | MYBPC3-related condition | 2022-11-16 | criteria provided, single submitter | clinical testing | The MYBPC3 c.1039G>A variant is predicted to result in the amino acid substitution p.Gly347Ser. This variant was reported in an individual with hypertrophic cardiomyopathy (Additional file 2, Hathaway et al. 2021. PubMed ID: 33673806). This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-47367809-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Blueprint Genetics | RCV000157306 | SCV000207038 | likely pathogenic | Primary familial hypertrophic cardiomyopathy | 2014-05-22 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV001699104 | SCV001925172 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699104 | SCV001968222 | uncertain significance | not provided | no assertion criteria provided | clinical testing |