Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genetics Group at Institute of Prion Diseases London, |
RCV000736266 | SCV000864563 | pathogenic | Alzheimer disease | 2017-02-01 | criteria provided, single submitter | clinical testing | This result is consistent with a diagnosis of Alzheimer's disease in this patient. The PSEN1 c.424G>A p. (Val142Ile) variant has not been previously reported in the literature or to public databases of genetic variation (ExAC, EVS, 1000G), though it is likely to be pathogenic. It causes a missense change at a highly conserved amino acid located within the second transmembrane domain of the protein, a region in which several pathogenic missense mutations have been previously reported. Analysis of affected family members would assist in the interpretation of this result. |