ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) (rs147472391)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669842 SCV000794634 uncertain significance Non-ketotic hyperglycinemia 2017-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669842 SCV000897524 uncertain significance Non-ketotic hyperglycinemia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000669842 SCV000931199 uncertain significance Non-ketotic hyperglycinemia 2019-11-23 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 951 of the GLDC protein (p.Ser951Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs147472391, ExAC 0.1%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual with nonketotic hyperglycinemia (PMID: 27362913). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 554247). Experimental studies have shown that this missense change decreases the enzymatic activity of glycine decarboxylase (PMID: 16802295). 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.
Athena Diagnostics Inc RCV000992083 SCV001144068 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000669842 SCV001330583 uncertain significance Non-ketotic hyperglycinemia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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