rs193922680

A SNP in the ACTC1 gene on chromosome 15. Its most notable genotype is C;T: left ventricular noncompaction (reported); possible familial hypertrophic cardiomyopathy

Gene
ACTC1
Location
Chr 1534,793,398 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadleft ventricular noncompaction (reported); possible familial hypertrophic cardiomyopathyVery important · 6.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs193922680 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other ACTC1 SNPs

All ACTC1 SNPs

Notes

From SNPedia

Notes

rs193922680, also known as c.301G>A, p.Glu101Lys and E101K, is a rare mutation in the ACTC1 gene on chromosome 15. Inherited as an autosomal dominant, it reportedly leads to a form of left ventricular noncompaction. The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to . See OMIM 102540.0009

C;T

see discussion at rs193922680

Source and license

Adapted from rs193922680 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.