ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131279 SCV003811414 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003131279 SCV004557449 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-04-10 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ITGA7 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. ClinVar contains an entry for this variant (Variation ID: 2432908). This variant has not been reported in the literature in individuals affected with ITGA7-related conditions. This variant is present in population databases (rs747302062, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 315 of the ITGA7 protein (p.Arg315Cys).

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