Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481383 | SCV000567185 | pathogenic | not provided | 2015-07-16 | criteria provided, single submitter | clinical testing | The c.131_132delTA deletion in the TSC2 gene causes a frameshift starting with codon Isoleucine 44,changes this amino acid to a Threonine residue and creates a premature Stop codon at position 22 of thenew reading frame, denoted p.Ile44ThrfsX22. This deletion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant hasnot been previously reported to our knowledge, other frameshift variants have been reported in the TSC2gene in association with tuberous sclerosis (TSC2 LOVD; Stenson et al., 2014). Therefore, the c.131_132delTA variant is considered pathogenic. |