Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423250 | SCV000520880 | pathogenic | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | The c.774+1 G>A splice site variant in the TSC2 gene has been previously reported in association with TSC (Sancak et al., 2005; Au et al., 2007; TSC2 LOVD). This pathogenic variant destroys the canonical splice donor site in intron 8, and is expected to cause abnormal gene splicing. Additionally, the c.774+1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |
Tuberous sclerosis database |
RCV000043186 | SCV000066986 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |