Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498966 | SCV000590135 | likely pathogenic | not provided | 2017-06-15 | criteria provided, single submitter | clinical testing | A likely pathogenic variant has been identified in the MYBPC3 gene. The c.2602+2 T>G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a nucleotide position that is conserved across species. The c.2602+2 T>G variant is predicted to destroy the canonical splice donor site in intron 25 and cause abnormal gene splicing. Other splice site variants in the MYBPC3 gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). |