Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000629017 | SCV000749927 | uncertain significance | Hypertrophic cardiomyopathy | 2023-05-08 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 525036). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 980 of the MYBPC3 protein (p.Arg980Gly). |
| CHEO Genetics Diagnostic Laboratory, |
RCV000770330 | SCV000901764 | uncertain significance | Cardiomyopathy | 2019-12-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002438634 | SCV002750212 | uncertain significance | Cardiovascular phenotype | 2022-07-06 | criteria provided, single submitter | clinical testing | The p.R980G variant (also known as c.2938C>G), located in coding exon 28 of the MYBPC3 gene, results from a C to G substitution at nucleotide position 2938. The arginine at codon 980 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |