ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)

dbSNP: rs1566630910
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London, University College 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.

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