Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489497 | SCV000576492 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the RYR2 gene. The c.14557_14559delTTT 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 in-frame deletion results in a deletion of one phenylalanine residue at position 4853 of the RYR2 gene that is conserved across species. However, as this is an in-frame deletion, it is not expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. |