ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1866_1867AT[3] (p.Ala624fs) (rs772068893)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674286 SCV000799596 likely pathogenic Non-ketotic hyperglycinemia 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV000674286 SCV000959211 pathogenic Non-ketotic hyperglycinemia 2018-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala624Metfs*11) in the GLDC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772068893, ExAC 0.001%). This variant has been reported in an individual affected with nonketotic hyperglycinemia (PMID: 26179960).  ClinVar contains an entry for this variant (Variation ID: 558067). This variant has been reported as p.Y623insATfs in the literature. 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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