Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000297989 | SCV000335233 | uncertain significance | not provided | 2015-09-10 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000664621 | SCV000788617 | uncertain significance | GNE myopathy | 2017-04-21 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004767213 | SCV005381614 | uncertain significance | not specified | 2024-08-01 | criteria provided, single submitter | clinical testing | Variant summary: GNE c.841C>A (p.Leu281Met) results in a 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 251416 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.841C>A has been reported in the literature in the presumed compound heterozygous state in at least 1 individual affected with clinical features of autosomal recessive Inclusion Body Myopathy 2 (example, Chaouch_2014). These report(s) do not provide unequivocal conclusions about association of the variant with GNE-related conditions. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 24695763). ClinVar contains an entry for this variant (Variation ID: 283249). Based on the evidence outlined above, the variant was classified as uncertain significance. |