Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814699 | SCV000955118 | uncertain significance | Hypertrophic cardiomyopathy | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs761672176, gnomAD 0.006%). 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: 657978). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 500 of the MYBPC3 protein (p.Lys500Thr). |
Fulgent Genetics, |
RCV002495145 | SCV002783204 | uncertain significance | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-08-26 | criteria provided, single submitter | clinical testing |