ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3323G>A (p.Arg1108Gln)

gnomAD frequency: 0.00001  dbSNP: rs201709662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502623 SCV000595274 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000535215 SCV000648335 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-05-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 435533). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1108 of the ITGA7 protein (p.Arg1108Gln). This variant is present in population databases (rs201709662, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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