ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.2004C>T (p.Ser668=)

gnomAD frequency: 0.00038  dbSNP: rs150045137
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000275261 SCV000337608 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082469 SCV001100819 likely benign GNE myopathy; Sialuria 2024-12-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526657 SCV005039768 benign not specified 2024-03-19 criteria provided, single submitter clinical testing Variant summary: GNE c.2097C>T alters a conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00016 in 251468 control chromosomes, predominantly at a frequency of 0.0014 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 1.25 fold of the estimated maximal expected allele frequency for a pathogenic variant in GNE causing Inclusion Body Myopathy 2 phenotype (0.0011), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. To our knowledge, no occurrence of c.2097C>T in individuals affected with Inclusion Body Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 284820). Based on the evidence outlined above, the variant was classified as benign.
Natera, Inc. RCV001273948 SCV001457573 uncertain significance GNE myopathy 2020-01-24 no assertion criteria provided clinical testing

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