ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.808+1G>C (rs730880400)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157794 SCV000207724 uncertain significance not provided 2018-04-02 criteria provided, single submitter clinical testing The c.808+1 G>C variant of uncertain significance in the ACTC1 gene has not been reported as a pathogenic or benign to our knowledge. This variant destroys the canonical splice donor site in intron 5 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, the majority of pathogenic variants in ACTC1 gene are missense changes, indicating haploinsufficiency of ACTC1 may not be sufficient to cause cardiomyopathy. Nevertheless, this variant is not observed in large population cohorts (Lek et al., 2016)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.