rs74315472

A SNP in the ARSA gene on chromosome 22. Its most notable genotype is A;A: miscalled by 23andMe; otherwise, when correct, Metachromatic leukodystrophy allele

Gene
ARSA
Location
Chr 2250,626,618 (GRCh38)
Highest magnitude
3.1Important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadmiscalled by 23andMe; otherwise, when correct, carrier of one Metachromatic leukodystrophy alleleWorth knowing · 2.9
  3. A;AMost notableBadmiscalled by 23andMe; otherwise, when correct, Metachromatic leukodystrophy alleleImportant · 3.1

SNPedia records rs74315472 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other ARSA SNPs

All ARSA SNPs

Notes

From SNPedia

Show notes, about 210 words

rs74315472, 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. 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

A;G

see discussion at rs74315472 It is not known if the reporting problem that affects 23andMe customers affects other DTC companies.

A;A

see discussion at rs74315472 It is not known if the reporting problem that affects 23andMe customers affects other DTC companies.

Source and license

Adapted from rs74315472 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.