ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1723G>T (p.Glu575Ter) (rs1554646529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669298 SCV000794039 likely pathogenic Non-ketotic hyperglycinemia 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000760511 SCV000890402 pathogenic not provided 2018-09-05 criteria provided, single submitter clinical testing The E575X variant in the GLDC gene has been reported previously, in the compound heterozygous state along with a missense variant, in an individual with a suspected diagnosis of nonketotic hyperglycinemia (Coughlin et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E575X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E575X as a pathogenic variant.

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