ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.466T>C (p.Tyr156His)

gnomAD frequency: 0.00001  dbSNP: rs794727505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177229 SCV000229070 uncertain significance not provided 2014-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000667198 SCV000791616 uncertain significance GNE myopathy 2017-05-19 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852136 SCV000899760 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001296886 SCV001485863 uncertain significance GNE myopathy; Sialuria 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 187 of the GNE protein (p.Tyr187His). This variant is present in population databases (rs794727505, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of myopathy (PMID: 24796702, 28320138; Invitae). ClinVar contains an entry for this variant (Variation ID: 196410). 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. 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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