ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.317T>C (p.Ile106Thr)

dbSNP: rs773920008
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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) RCV000276478 SCV000342374 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000276478 SCV003815029 uncertain significance not provided 2022-06-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230473 SCV003929163 uncertain significance not specified 2023-04-29 criteria provided, single submitter clinical testing Variant summary: GNE c.410T>C (p.Ile137Thr) results in a non-conservative amino acid change located in the UDP-N-acetylglucosamine 2-epimerase domain (IPR003331) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251294 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.410T>C has been reported in the literature as a compound heterozygous genotype with another pathogenic variant in at-least one individual affected with GNE myopathy (example, Lv_2022, overlapping with Lu_2011 and Lu_2011). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 26980148, 24027297, 21868336, 22196754, 35138478). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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