rs57520892

A SNP in the LMNA gene on chromosome 1. Its most notable genotype is C;G: Emery-Dreifuss muscular dystrophy (predicted)

Gene
LMNA
Location
Chr 1156,137,204 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GBadCarrier of a mandibuloacral dysplasia mutationImportant · 3.0
  2. C;CBadNo summary available.Very important · 5.0
  3. C;GMost notableBadEmery-Dreifuss muscular dystrophy (predicted)Very important · 6.0
  4. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (A;G), (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other LMNA SNPs

All LMNA SNPs

Notes

From SNPedia

Show notes, about 160 words

aka c.1580G>A (p.Arg527His or R527H) and also c.1580G>C (p.Arg527Pro or R527P); both are considered pathogenic in ClinVar. However, the p.Arg527Pro mutation is considered to lead to early-onset, autosomal dominant Emery-Dreifuss muscular dystrophy, whereas the p.Arg527His mutation is considered to lead to recessively inherited mandibuloacral dysplasia (with type A lipdystrophy), based on links in ClinVar and OMIM. The R527P mutation is one of the mutations described at *https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation *http://www.thisamericanlife.org/radio-archives/episode/577/something-only-i-can-see

A;G

Unaffected in absence of a second LMNA gene mutation

C;C

This is one of the mutations described at *https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation *http://www.thisamericanlife.org/radio-archives/episode/577/something-only-i-can-see

C;G

See text and links via main rs-page

Source and license

Adapted from rs57520892 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.