ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)

gnomAD frequency: 0.00001  dbSNP: rs761965919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213812 SCV001385462 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2025-01-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 826 of the ITGA7 protein (p.Gly826Ser). This variant is present in population databases (rs761965919, gnomAD 0.003%). 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: 943593). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ITGA7 protein function with a positive predictive value of 80%. 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 RCV001213812 SCV003811449 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2020-07-17 criteria provided, single submitter clinical testing

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