ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.484C>T (p.Arg162Cys)

dbSNP: rs769215411
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594398 SCV000701416 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing
Counsyl RCV000597478 SCV000792348 likely pathogenic GNE myopathy 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214147 SCV001385815 pathogenic GNE myopathy; Sialuria 2024-09-11 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 193 of the GNE protein (p.Arg193Cys). This variant is present in population databases (rs769215411, gnomAD 0.003%). This missense change has been observed in individual(s) with autosomal recessive GNE-related conditions (PMID: 12811782, 24005727, 28099567). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as R162C. ClinVar contains an entry for this variant (Variation ID: 290196). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GNE protein function. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000597478 SCV001440136 likely pathogenic GNE myopathy 2019-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000594398 SCV002018498 likely pathogenic not provided 2021-08-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000597478 SCV005059609 likely pathogenic GNE myopathy 2024-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044550 SCV005682228 pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-05-31 criteria provided, single submitter clinical testing

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