ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1070+2dup

dbSNP: rs886043636
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301725 SCV000341224 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000697680 SCV000826305 likely pathogenic GNE myopathy; Sialuria 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 6 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 not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with hereditary inclusion-body myopathy (PMID: 15146476, 22231866). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1070+2dupT. ClinVar contains an entry for this variant (Variation ID: 287448). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with inconclusive levels of altered splicing (PMID: 15146476). 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.

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