ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.1829G>T (p.Gly610Val)

gnomAD frequency: 0.00004  dbSNP: rs550384423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497767 SCV000590714 uncertain significance not provided 2020-06-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000801855 SCV000941653 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 610 of the ITGA7 protein (p.Gly610Val). This variant is present in population databases (rs550384423, gnomAD 0.07%). 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: 432936). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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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