ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)

dbSNP: rs1594750510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799361 SCV000939020 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2018-07-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with PSEN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 303 of the PSEN1 protein (p.Pro303Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine.

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