||common in clinvar
||likely miscall for 23andMe and Ancestry users; otherwise, possible Alzheimer's disease association but causation unclear; dilated cardiomyopathy
rs63750197, also known as S130L or Ser130Leu, is a SNP in the presenilin 2 PSEN2 gene.
Although based on small numbers of patients, the rare rs63750197(T) allele has been reported to be associated with both Alzheimer's disease and a form of dilated cardiomyopathy.[PMID 14623725],[PMID 17186461]
However, the Alzheimer pathogenicity is considered "unclear", and while the evidence for involvement with dilated cardiomyopathy evidence is strong, the condition has incomplete penetrance. An excellent overview of research to date on this mutation is here on the AlzForum.
Additionally, Promethease reports from 23andMe customers, and more recently, Ancestry users, have a significantly higher frequency of (C;T) genotype calls than would be expected based on the rarity of this mutation. It is therefore likely that this genotype is being miscalled for a high percentage of 23andMe users. If customers with data from other companies, especially ones using Illumina DNA arrays, see a (C;T) genotype call in their data or in their Promethease report they are asked to contact us.