ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)

dbSNP: rs1817555980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196858 SCV001367491 likely pathogenic Non-ketotic hyperglycinemia 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV001196858 SCV003440774 pathogenic Non-ketotic hyperglycinemia 2022-03-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 930882). This premature translational stop signal has been observed in individual(s) with non-ketotic hyperglycinemia (PMID: 27362913). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala794Glnfs*27) 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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