Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619020 | SCV000740047 | pathogenic | Cardiovascular phenotype | 2016-12-30 | criteria provided, single submitter | clinical testing | The c.1103_1107dupAGCTG pathogenic mutation, located in coding exon 13 of the MYBPC3 gene, results from a duplication of AGCTG at nucleotide position 1103, causing a translational frameshift with a predicted alternate stop codon (p.E370Sfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Gene |
RCV001576301 | SCV001803459 | pathogenic | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as pathogenic but additional evidence is not available (ClinVar Variant ID# 520308; Landrum et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease |