ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003040192 SCV003348324 pathogenic GNE myopathy; Sialuria 2022-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GNE protein in which other variant(s) (p.Met743Thr) have been determined to be pathogenic (PMID: 11528398, 15147877, 15670773, 20300792, 23278550). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 creates a premature translational stop signal (p.Val696*) in the GNE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acid(s) of the GNE protein.

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