ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.397_398dup (p.Glu134fs)

dbSNP: rs1829869628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001225305 SCV001335596 pathogenic GNE myopathy 2020-04-16 criteria provided, single submitter clinical testing A heterozygous 2 base pair duplication in exon 3 of the GNE gene that results in a frameshift and premature truncation of the protein 18 amino acids downstream to codon 165 was detected. The observed variant c.490_491dup(p.Glu165LeufsTer18) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770261 SCV004574387 pathogenic GNE myopathy; Sialuria 2023-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 953066). This premature translational stop signal has been observed in individual(s) with autosomal recessive GNE-related myopathy (PMID: 29480215). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu165Leufs*18) in the GNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297).

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