ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.484C>T (p.Arg162Cys) (rs769215411)

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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 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
Invitae RCV001214147 SCV001385815 pathogenic GNE myopathy; Sialuria 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 193 of the GNE protein (p.Arg193Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs769215411, ExAC 0.003%). This variant has been observed to segregate with autosomal recessive inclusion body myopathy in a in a family (PMID: 12811782) and has been observed in additional individuals affected with GNE-related conditions (PMID: 24005727, 28099567). This variant is also known as R162C in the literature. ClinVar contains an entry for this variant (Variation ID: 290196). 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. For these reasons, this variant has been classified as Pathogenic.

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