Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000826207 | SCV000967766 | pathogenic | Tuberous sclerosis syndrome | 2018-04-27 | criteria provided, single submitter | clinical testing | The p.Leu320fs variant in TSC1 has been reported in one individual with tuberous sclerosis complex (TSC; Tuberous sclerosis LOVD database: http://chromium.lovd. nl/LOVD2/TSC/) and was absent from population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 320 and leads to a premature termination codon 9 amino acids downst ream. This alteration is then predicted to lead to a truncated or absent protein . Heterozygous loss of function of the TSC1 gene is an established disease mecha nism in individuals with TSC. In summary, this variant meets criteria to be clas sified as pathogenic for TSC in an autosomal dominant manner based upon the pred icted impact on the protein and absence in controls. ACMG/AMP Criteria applied: PVS1, PM2, PS4_Supporting. |