ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) (rs1566630791)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Biología Molecular, FLENI RCV000782176 SCV000897714 likely pathogenic Alzheimer disease, type 3 2019-04-10 criteria provided, single submitter research The c.356C>T variant in PSEN1 (NM_000021.4) predicts a threonine-to-isoleucine substitution at codon 119 (p.T119I). This variant was present in three individuals of an Argentine family with autosomal dominant Alzheimer's disease. Ages of onset for affected individuals were: 49, 54, and 71. Cerebrospinal fluid and imaging biomarkers in two of the variant carriers showed evidence of underlying Alzheimer's pathology. According to ACMG guidelines (Richards, 2015) this variant can be classified as "likely pathogenic" (supporting evidence PM1, PM2, PP2, PP3). Functional studies were not performed yet.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196175 SCV001366710 likely pathogenic Frontotemporal dementia 2019-07-02 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3,PP4,PP5.

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