ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)

dbSNP: rs770743220
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053812 SCV001218093 pathogenic Non-ketotic hyperglycinemia 2022-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GLDC-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 849779). This variant is present in population databases (rs770743220, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu844*) in the GLDC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLDC are known to be pathogenic (PMID: 16601880).

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