ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys)

dbSNP: rs375671999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043147 SCV001206864 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-09-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 156 of the ITGA7 protein (p.Thr156Lys). This variant is present in population databases (rs375671999, gnomAD 0.006%). 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: 841014). 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 not 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.
GeneDx RCV001772236 SCV001993137 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001043147 SCV003811451 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-10-10 criteria provided, single submitter clinical testing

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