|| common in clinvar
|| miscalled by 23andMe; otherwise, when correct, carrier of one Metachromatic leukodystrophy allele
|| miscalled by 23andMe; otherwise, when correct, Metachromatic leukodystrophy allele
, also known as c.827C>T, p.Thr276Met and T276M, is a mutation in the ARSA
gene on chromosome 22.
The very rare rs74315472(T) allele is reported to lead, when inherited in two copies or as a compound heterozygote, to late-infantile Metachromatic leukodystrophy. This mutation is reported in Lebanese and Australian populations.[PMID 8104633]
NOTE for 23andMe users: Your data for this SNP is not believable and should be ignored. The minor allele for this SNP is quite rare, as can be seen in several major databases, yet the frequency of this (minor) allele is far higher as reported by 23andMe to it's customers. At this time, it is not known if the problem is restricted to 23andMe customers, or if other companies using similiar (Illumina) microarrays are also mis-reporting the results for this allele. If you have additional information from your own data that you would like to share with SNPedia to help shed light on this problem, feel free to contact us.
see also OMIM 607574.0027