Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622230 | SCV000735259 | uncertain significance | Cardiovascular phenotype | 2023-06-07 | criteria provided, single submitter | clinical testing | The p.P453A variant (also known as c.1357C>G), located in coding exon 16 of the MYBPC3 gene, results from a C to G substitution at nucleotide position 1357. The proline at codon 453 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
Invitae | RCV001207969 | SCV001379337 | uncertain significance | Hypertrophic cardiomyopathy | 2023-04-17 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 518498). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This variant is present in population databases (rs749310275, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 453 of the MYBPC3 protein (p.Pro453Ala). |
Fulgent Genetics, |
RCV002483700 | SCV002791020 | uncertain significance | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2022-02-23 | criteria provided, single submitter | clinical testing |