ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.259C>T (p.Arg87Cys)

gnomAD frequency: 0.00005  dbSNP: rs140570573
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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 RCV000555301 SCV000648322 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 87 of the ITGA7 protein (p.Arg87Cys). This variant is present in population databases (rs140570573, gnomAD 0.007%). 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: 470575). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV001755858 SCV001985656 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Revvity Omics, Revvity RCV000555301 SCV003811412 uncertain significance Congenital muscular dystrophy due to integrin alpha-7 deficiency 2019-09-19 criteria provided, single submitter clinical testing

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