ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) (rs557412758)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000554267 SCV000788797 uncertain significance Non-ketotic hyperglycinemia 2016-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000554267 SCV000897525 uncertain significance Non-ketotic hyperglycinemia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000554267 SCV000636356 uncertain significance Non-ketotic hyperglycinemia 2017-07-20 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 509 of the GLDC protein (p.Pro509Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs557412758, ExAC 0.2%). This variant has been reported in an individual affected with a neural tube defect (PMID: 22171071) and an individual with possible transient glycine encephalopathy (PMID: 25231368). Experimental studies have shown that this missense change decreases GLDC enzyme activity in cell culture (PMID: 22171071). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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