ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln) (rs1553255288)

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
Invitae RCV000639665 SCV000761245 pathogenic Nemaline myopathy 3 2017-08-28 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ACTA1 mRNA. It is expected to extend the length of the ACTA1 protein by 47 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with nemaline myopathy (PMID: 16945536, Invitae). Experimental studies have shown that this stop loss change and the extended protein produced rod bodies, supporting the the nemaline myopathy in the patients is caused by the expression of the enlarged actin proteins (PMID: 16945536). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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.