||common in clinvar
||associated with Alzheimer's disease (either early- or late-onset)
rs63749824, also known as c.236C>T, A79V or Ala79Val, is a SNP in the presenilin 1 PSEN1 gene.
Inherited as an autosomal dominant, the rare rs63749824(T) allele is considered pathogenic for late-onset Alzheimer's disease.
Reported in [PMID 28350801] to be a "definitely" pathogenic mutation. However, they note that this variant seems to be associated with a later onset compared to other PSEN1 variants, and, it has been found in several families with late-onset AD. This suggests that this mutation spans a large range of age of onsets (53–78 y), which the authors state "could lead to underestimation of its frequency and is of importance for genetic counseling".
[PMID 17366635] Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
[PMID 17615170] Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease.