ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1058+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797113 SCV000936655 pathogenic Non-ketotic hyperglycinemia 2018-10-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the GLDC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in combination with another GLDC variant in an individual affected with glycine encephalopathy (PMID: 27362913). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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