ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1742G>T (p.Cys581Phe)

gnomAD frequency: 0.00001  dbSNP: rs756926638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595811 SCV000702560 uncertain significance not provided 2016-10-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001243244 SCV001416389 uncertain significance GNE myopathy; Sialuria 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 612 of the GNE protein (p.Cys612Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is present in population databases (rs756926638, ExAC 0.001%). This missense change has been observed in individual(s) with clinical features of GNE-related myopathy (PMID: 27858732). ClinVar contains an entry for this variant (Variation ID: 497836). 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. This variant disrupts the p.Cys612 amino acid residue in GNE. Other variant(s) that disrupt this residue have been observed in individuals with GNE-related conditions (PMID: 25422667), which suggests that this may be a clinically significant amino acid residue. 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.
Breakthrough Genomics, Breakthrough Genomics RCV000595811 SCV005195422 uncertain significance not provided criteria provided, single submitter not provided

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