Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000168820 | SCV000059246 | uncertain significance | not specified | 2019-07-22 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Invitae | RCV001035130 | SCV001198445 | uncertain significance | Hypertrophic cardiomyopathy | 2022-04-15 | 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. This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1183 of the MYBPC3 protein (p.Phe1183Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 24793961, 27532257, 33673806). ClinVar contains an entry for this variant (Variation ID: 42720). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486550 | SCV004239381 | uncertain significance | Cardiomyopathy | 2023-05-19 | criteria provided, single submitter | clinical testing |