Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498339 | SCV000589839 | likely pathogenic | not provided | 2016-04-25 | criteria provided, single submitter | clinical testing | Although the c.2906-1 G>C variant has not been reported as a pathogenic variant or as a benign variant to our knowledge, it destroys the canonical splice acceptor site in intron 27 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the MYBPC3 gene have been reported in HGMD in association with HCM (Stenson et al., 2014). Furthermore, the c.2906-1 G>C variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.2906-1 G>C in the MYBPC3 gene is expected to be pathogenic |