ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2216G>A (p.Arg739His) (rs121964980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012770 SCV000956559 likely pathogenic Non-ketotic hyperglycinemia 2018-08-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 739 of the GLDC protein (p.Arg739His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121964980, ExAC 0.005%). This variant has been observed to be homozygous in an individual affected with nonketotic hyperglycinemia (PMID: 15824356). It has also been observed in another individual with nonketotic hyperglycinemia, but in this individual a second pathogenic allele was not identified (PMID: 16450403).  ClinVar contains an entry for this variant (Variation ID: 11990). Experimental studies have shown that this missense change disrupts normal GLDC protein function (PMID: 15824356). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV000012770 SCV001163615 likely pathogenic Non-ketotic hyperglycinemia criteria provided, single submitter clinical testing
OMIM RCV000012770 SCV000033005 pathogenic Non-ketotic hyperglycinemia 2005-04-12 no assertion criteria provided literature only

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