Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121618781 G>T
Position: (GRCh37/hg19):Chr11:121489490 G>T
dbSNP ID: rs1469853536
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: GGT to GTT
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 42

Findings

The G1871V variant was found in a Spanish Alzheimer’s patient, who was 73 years old at symptom onset (Gómez-Tortosa et al., 2018). The variant did not segregate with disease in this family: Two other affected members did not carry the variant.

The G1871V variant is of uncertain significance by the criteria of Holstege et al. (Holstege et al., 2017).

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References

Paper Citations

1. Gómez-Tortosa E, Ruggiero M, Sainz MJ, Villarejo-Galende A, Prieto-Jurczynska C, Venegas Pérez B, Ordás C, Agüero P, Guerrero-López R, Pérez-Pérez J. SORL1 Variants in Familial Alzheimer's Disease. J Alzheimers Dis. 2018;61(4):1275-1281. PubMed.
2. Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017 Aug;25(8):973-981. Epub 2017 May 24 PubMed.

Further Reading

No Available Further Reading