Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657460 | SCV000779195 | pathogenic | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | The c.1875_1876delAC pathogenic variant in the TSC2 gene causes a frameshift starting with codonLeucine 626, changes this amino acid to an Alanine residue and creates a premature Stop codon atposition 30 of the new reading frame, denoted p.Leu626AlafsX30. This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1875_1876delAC variant is not observed in large population cohorts (Lek et al., 2016). |
Tuberous sclerosis database |
RCV000055309 | SCV000083529 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |