Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158314 | SCV000208249 | uncertain significance | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Blueprint Genetics | RCV000158314 | SCV000927344 | uncertain significance | not provided | 2017-07-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179381 | SCV001344035 | likely benign | Cardiomyopathy | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001304008 | SCV001493275 | uncertain significance | Hypertrophic cardiomyopathy | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 181051). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |