ClinVar Miner

Submissions for variant NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met) (rs200485048)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000403306 SCV000341850 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Invitae RCV000559183 SCV000648334 uncertain significance Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1096 of the ITGA7 protein (p.Thr1096Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs200485048, ExAC 0.02%). This variant has not been reported in the literature in individuals with ITGA7-related disease. ClinVar contains an entry for this variant (Variation ID: 287906). 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: "Benign"; 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000559183 SCV000782617 uncertain significance Muscular dystrophy, congenital, due to integrin alpha-7 deficiency 2017-03-10 criteria provided, single submitter clinical testing

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