ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816670 SCV000957187 pathogenic Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 116 of the PSEN1 protein (p.Thr116Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with early-onset Alzheimer's disease (EOAD) in several families (PMID: 10439444, 29404783), and has also been observed in several individuals and families affected with EOAD (PMID: 16033913, 27777022, 18667258). Experimental studies have shown that this missense change affects protein function (PMID: 27930341). For these reasons, this variant has been classified as Pathogenic.

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