ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.982+2T>A

dbSNP: rs2133067872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043361 SCV002303328 likely pathogenic GNE myopathy; Sialuria 2022-02-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with GNE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the GNE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297).
Baylor Genetics RCV004571976 SCV005059620 likely pathogenic GNE myopathy 2023-12-15 criteria provided, single submitter clinical testing

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