ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) (rs1566641934)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000785875 SCV000924298 uncertain significance Alzheimer disease, type 3 2019-05-23 criteria provided, single submitter clinical testing The c.551A>G (p.Glu184Gly) variant in PSEN1 gene has been reported in French patients previously (Wallon D et al. JAD 2012). The patient in our clinical analysis was diagnosed with the said variant in an autosomal dominant mode of inheritance. The observed variant has not been reported in the 1000 Genomes and ExAC databases. The in silico predictions of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the said variant meets our criteria to be classified as uncertain significance based on the mode of inheritance, in silico prediction and allele frequency in population databases.
Institute of Human Genetics,Klinikum rechts der Isar RCV000785875 SCV001149893 pathogenic Alzheimer disease, type 3 2018-11-08 criteria provided, single submitter clinical testing

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