ClinVar Miner

Submissions for variant NC_000009.12:g.(?_6558539)_(6565449_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638300 SCV000759794 pathogenic Non-ketotic hyperglycinemia 2017-10-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 16-17 of the GLDC gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GLDC-related disease. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880). For these reasons, this variant has been classified as Pathogenic.

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