Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009015 | SCV001168824 | likely pathogenic | not provided | 2018-09-20 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the PTEN gene. The c.673delT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.673delT variant is not observed in large population cohorts (Lek et al., 2016). The c.673delT variant causes a frameshift starting with codon Tyrosine 225, changes this amino acid to an Isoleucine residue and creates a premature Stop codon at position 31 of the new reading frame, denoted p.Tyr225IlefsX31. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, this variant has occurred de novo in this individual whose reported history of seizures and possible cortical dysplasia is described in PTEN hamartoma tumor syndrome. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |