Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497886 | SCV000589552 | pathogenic | not provided | 2017-06-20 | criteria provided, single submitter | clinical testing | The c.2090dupT pathogenic variant in the TSC2 gene has been reported previously in an individual with a clinical diagnosis of TSC (Rendtorff et al., 2005). The duplication causes a frameshift starting with codon Leucine 697, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Leu697PhefsX6. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.2090dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of c.2090dupT is consistent with a diagnosis of TSC in this individual. |
Tuberous sclerosis database |
RCV000042912 | SCV000066708 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |