Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035377 | SCV000059025 | uncertain significance | not specified | 2010-03-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000462404 | SCV000546479 | uncertain significance | Hypertrophic cardiomyopathy | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 14 of the MYBPC3 gene. It does not directly change the encoded amino acid sequence of the MYBPC3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs397515892, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with dilated cardiomyopathy (PMID: 30871747). ClinVar contains an entry for this variant (Variation ID: 42512). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant does not affect mRNA splicing (PMID: 28679633). 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. |
Color Diagnostics, |
RCV001188891 | SCV001356064 | uncertain significance | Cardiomyopathy | 2023-02-15 | criteria provided, single submitter | clinical testing | This variant causes a T>C nucleotide substitution at the +6 position of intron 14 of the MYBPC3 gene. Splice site prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 30871747, 31179125) and in a case of sudden cardiac death (PMID: 36293497). This variant has been identified in 23/241524 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Gene |
RCV001778673 | SCV002015816 | likely benign | not provided | 2021-05-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28679633, 30871747) |
All of Us Research Program, |
RCV000462404 | SCV004819798 | uncertain significance | Hypertrophic cardiomyopathy | 2023-11-30 | criteria provided, single submitter | clinical testing | This variant causes a T>C nucleotide substitution at the +6 position of intron 14 of the MYBPC3 gene. Splice site prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 30871747, 31179125) and in a case of sudden cardiac death (PMID: 36293497). This variant has been identified in 23/241524 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |