ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.917G>A (p.Arg306Gln)

dbSNP: rs1455785164
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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) RCV000592708 SCV000703654 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586813 SCV005076308 likely pathogenic GNE myopathy 2024-04-12 criteria provided, single submitter clinical testing Variant summary: GNE c.1010G>A (p.Arg337Gln) results in a conservative amino acid change located in the UDP-N-acetylglucosamine 2-epimerase domain (IPR003331) of the encoded protein sequence. Three 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 251486 control chromosomes. c.1010G>A has been reported in the literature in at-least four individuals affected with GNE-related myopathy (example,Chen_2019, Lv_2022, Mori-Yoshimura_2012, Nishino_2002, Park_2019). These data indicate that the variant is likely to be associated with disease. 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: 30390020, 35138478, 22507750, 12473753, 31286697). ClinVar contains an entry for this variant (Variation ID: 498574). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005044883 SCV005682221 likely pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-04-17 criteria provided, single submitter clinical testing

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