|(A;G)||2||Pathogenicity unclear; possible carrier of a Joubert syndrome mutation|
|(G;G)||0||common in clinvar|
rs117447608, also known as c.3368C>T, p.Ser1123Phe and S1123F, represents a variant in the AHI1 gene on chromosome 6. The frequency of the minor allele is around 0.5% - 1% in most populations.
The minor allele, rs117447608(A) in dbSNP orientation, is reported as a "likely pathogenic" mutation in a 2014 publication, in which it was seen together with another AHI1 gene variant, C854F, in a 4 year old patient diagnosed as having autosomal recessive Joubert's syndrome type 3.[PMID 25326637]
Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns, but may be underdiagnosed.() A frequency of 1% for rs117447608(A) would appear to be too high to be consistent with a highly penetrant mutation for a Joubert syndrome subtype, so this variant probably awaits further study and clarification as to it's pathogenicity if any.
|Disease||not specified Joubert syndrome 3|
|CLNDBN||not specified Joubert syndrome 3|