ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln)

gnomAD frequency: 0.00008  dbSNP: rs752159189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520233 SCV000619789 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing The R1067Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1067Q variant is observed in 7/66,658 (0.01%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with ITGA7-related disorders (Stenson et al., 2014).
Labcorp Genetics (formerly Invitae), Labcorp RCV001364905 SCV001561105 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1067 of the ITGA7 protein (p.Arg1067Gln). This variant is present in population databases (rs752159189, gnomAD 0.02%). 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: 451131). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001364905 SCV003811413 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2021-12-07 criteria provided, single submitter clinical testing

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