Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000043199 | SCV000967771 | pathogenic | Tuberous sclerosis syndrome | 2018-04-30 | criteria provided, single submitter | clinical testing | The p.Leu291fs variant in TSC2 has been reported in 1 individual with tuberous s clerosis complex (TSC; Franz 2001, Dabora 2001), and was absent from large popul ation studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 291 and leads to a prematur e termination codon 47 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the TSC2 gene is an established disease mechanism in individuals with TSC. In summar y, this variant meets criteria to be classified as pathogenic for TSC in an auto somal dominant manner based upon the predicted impact on the protein and absence in the general population. ACMG/AMP Criteria applied: PVS1, PM2, PS4_Supporting . |
Tuberous sclerosis database |
RCV000043199 | SCV000067000 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |