ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.211A>T (p.Arg71Trp) (rs886044539)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657912 SCV000345325 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
Invitae RCV000534256 SCV000632652 uncertain significance GNE myopathy; Sialuria 2019-05-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 102 of the GNE protein (p.Arg102Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state in an individual affected with inclusion body myopathy (PMID: 20059379). This variant is also known as R71W in the literature. ClinVar contains an entry for this variant (Variation ID: 290713). 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 disruptive, 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.
GeneDx RCV000657912 SCV000779678 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing The R102W variant in the GNE gene has been reported previously in the homozygous state in an individual with myopathy (Saechao et al., 2010). The R102W variant is not observed in large population cohorts (Lek et al., 2016). The R102W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R102W as a variant of uncertain significance.
Counsyl RCV000400388 SCV000800551 uncertain significance GNE myopathy 2017-06-13 criteria provided, single submitter clinical testing

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