ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1816+4G>C

gnomAD frequency: 0.00003  dbSNP: rs760700813
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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) RCV000374573 SCV000337138 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
Invitae RCV000699246 SCV000827947 uncertain significance GNE myopathy; Sialuria 2022-02-04 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the GNE gene. It does not directly change the encoded amino acid sequence of the GNE protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs760700813, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 284491). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828202 SCV002075628 uncertain significance GNE myopathy 2020-02-21 no assertion criteria provided clinical testing

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