ClinVar Miner

Submissions for variant NC_000009.11:g.(?_36246018)_(36246489_?)del

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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 RCV003105459 SCV003792262 pathogenic GNE myopathy; Sialuria 2021-11-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the GNE gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). A similar copy number variant has been observed in individual(s) with GNE-related conditions (PMID: 24027297). For these reasons, this variant has been classified as Pathogenic.

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