ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068202 SCV001233299 pathogenic Non-ketotic hyperglycinemia 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 919 of the GLDC protein (p.Phe919Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another GLDC variant in individuals affected with nonketotic hyperglycinemia (PMID: 27362913). This variant has been reported to affect GLDC protein function (PMID: 29239742). For these reasons, this variant has been classified as Pathogenic.

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