Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000414407 | SCV000491645 | pathogenic | not provided | 2016-10-31 | criteria provided, single submitter | clinical testing | The c.3653delC pathogenic variant in the TSC2 gene causes a frameshift starting with codon Proline 1218, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 107 of the new reading frame, denoted p.Pro1218LeufsX107. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, it was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. |