ClinVar Miner

Submissions for variant NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) (rs763697782)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501075 SCV000595565 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311652 SCV000438186 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371003 SCV000438187 uncertain significance Walker-Warburg Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000792829 SCV000932150 uncertain significance Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 2018-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 9 of the LARGE11 protein (p.Arg9Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs763697782, ExAC 0.009%). This variant has not been reported in the literature in individuals with LARGE11-related disease. ClinVar contains an entry for this variant (Variation ID: 341439). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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