ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.227A>G (p.Gln76Arg)

gnomAD frequency: 0.00004  dbSNP: rs767427150
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
Invitae RCV000550367 SCV000648316 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 76 of the ITGA7 protein (p.Gln76Arg). This variant is present in population databases (rs767427150, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. ClinVar contains an entry for this variant (Variation ID: 470572). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 Omics RCV000550367 SCV003815715 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-08-14 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.