ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003419069 SCV004117913 pathogenic ACTA1-related disorder 2022-12-07 criteria provided, single submitter clinical testing The ACTA1 c.686T>C variant is predicted to result in the amino acid substitution p.Met229Thr. This variant (legacy nomenclature p.Met227Thr) was reported as de novo in two presumably unrelated patients with nemaline myopathy (Sparrow et al 2003. PubMed ID: 12921789; Table S1, Laing. 2009. PubMed ID: 19562689). Two other substitutions (Val, Ile) at this amino acid position have also been reported as pathogenic in seven patients, occurring de novo in all three cases in which parents were available for testing (Sparrow et al 2003. PubMed ID: 12921789; Table S1, Laing. 2009. PubMed ID: 19562689). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic.
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire RCV004587490 SCV005038471 pathogenic Nemaline myopathy 2024-03-01 criteria provided, single submitter research PS2+PM1+PM2+PP2+PP3+PP5

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.