Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482478 | SCV000566484 | pathogenic | not provided | 2015-05-06 | criteria provided, single submitter | clinical testing | The c.4099_4100insT insertion in the TSC2 gene causes a frameshiftstarting with codon Gylcine 136,changes this amino acid to a Valine residue and creates a premature Stop codon at position 47 of the newreading frame, denoted p.Gly1367ValfsX47. This insertion is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Although this variant has notbeen previously reported to our knowledge, other frameshift variants have been reported in the TSC2 genein association with TSC (TSC2 LOVD; Stenson et al., 2014). Therefore, we consider the c.4099_4100insT variant to be pathogenic. |