Mutations

PSEN1 P303L

Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37 (105)
Position: Chr14:73673133 C>T
dbSNP ID: rs147638016
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CCG to CTG
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 9

Findings

This mutation was identified in a genetic screen of 421 patients in the U.K. with early onset frontotemporal dementia (Koriath et al., 2018). It is also found in the gnomAD variant database with an allele count of two and a frequency of 0.000008. It was described as most likely fully penetrant (95% CI > 100% penetrance). The variant was classified as possibly deleterious following the ACMG-AMP guidelines (Richards et al., 2015).

Last Updated: 21 Aug 2019

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References

Paper Citations

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.
  2. . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. Epub 2015 Mar 5 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Mol Psychiatry. 2018 Oct 2; PubMed.

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