ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1A>G (p.Met1Val)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV003109790 SCV003791790 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-07 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ITGA7 mRNA. The next in-frame methionine is located at codon 39. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003109790 SCV003815697 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2020-01-06 criteria provided, single submitter clinical testing

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.