ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.665A>C (p.Gln222Pro)

dbSNP: rs63750009
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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 RCV000736262 SCV000864559 likely pathogenic Alzheimer disease 2017-02-01 criteria provided, single submitter research not on exac. not on molgen, but 2 mutations at same locus pathogenic (one change to Arg, one to His); these are both charged aminoacid in a transmembrane domain and Proline is a special case, but with a very different sidechain from Gln

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