Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489978 | SCV000576788 | likely pathogenic | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the TSC2 gene. The c.1096_1116del21 variant has been reported previously in association with tuberous sclerosis complex (TSC) (TSC2 LOVD). The c.1096_1116del21 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1096_1116del21variant results in an in-frame deletion of seven amino acids, denoted p.Glu366_Leu372del. In-frame deletions and duplications have been reported in the Human Gene Mutation Database in association with TSC (Stenson et al., 2014). However, the c.1096_1116del21 variant is not predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |