Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190059 | SCV000243734 | pathogenic | not provided | 2015-01-06 | criteria provided, single submitter | clinical testing | c.2491dupA: p.Thr831AsnfsX52 (T831NfsX52) in exon 22 of the TSC2 gene (NM_000548.3)The c.2491dupA mutation in the TSC2 gene causes a frameshift starting with codon Threonine 831, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Thr831AsnfsX52. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, a different frameshift mutation affecting the same nucleotide (c.2491_2492insTA) has been previously reported in association with TSC (Au et al., 1998). The variant is found in TUBSC-EPIV2-1 panel(s). |