| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
1
|
Xerocytosis-associated according to literature, but probably actually of little consequence
|
aka c.2423G>A (p.Arg808Gln)
This variant is one of the three mutations in the PIEZO1 gene reported as inherited together: c.[1848+31C>G;2344G>A;2423G>A], which was reported as being associated with xerocytosis in a 2013 publication.[PMID 23479567]
The prevalence of xerocytosis (from all known mutations) in the population is historically reported as being around 1 in 50,000 individuals, and even a recent estimate based on CBC tests carried out on samples sent in from physicians (likely to have a bias towards affected patients) estimated a prevalence of around 1 in 8,000.[PMID 28971500]
However, the minor allele for both this variant and the linked rs200970763 are seen in around 1 in 200 people, based on both DNA chip data gathered by Promethease from both 23andMe and Ancestry raw data, and based on sequencing data (gnomAD). Therefore, because the observed frequency is at least 100-fold higher than the estimated prevalence, it is unlikely that either of these variants is actually causative for xerocystosis.
