Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484334 | SCV000566041 | pathogenic | not provided | 2020-01-16 | criteria provided, single submitter | clinical testing | Has been reported as Leu901fs (due to alternative nomenclature) in association with HCM (Harris et al., 2011), and in association with DCM (Zimmerman et al., 2010); 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; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21415409, 20474083) |
Ambry Genetics | RCV002431392 | SCV002741729 | pathogenic | Cardiovascular phenotype | 2019-10-15 | criteria provided, single submitter | clinical testing | The c.2700_2703dupCCTG pathogenic mutation, located in coding exon 26 of the MYBPC3 gene, results from a duplication of CCTG at nucleotide position 2700, causing a translational frameshift with a predicted alternate stop codon (p.D902Pfs*150). This variant has been reported (as Leu901fs) in association with hypertrophic cardiomyopathy, although clinical details were limited (Harris SP et al. Circ. Res., 2011 Mar;108:751-64). 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. |