ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.2147T>A (p.Leu716His) (rs145018304)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000378657 SCV000480503 uncertain significance Non-ketotic hyperglycinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378657 SCV000759764 uncertain significance Non-ketotic hyperglycinemia 2017-11-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with histidine at codon 716 of the GLDC protein (p.Leu716His). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and histidine. This variant is present in population databases (rs145018304, ExAC 0.04%). This variant has been reported in an individual affected with with nonketotic hyperglycinemia (PMID: 27362913). ClinVar contains an entry for this variant (Variation ID: 367183). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Counsyl RCV000378657 SCV000794626 uncertain significance Non-ketotic hyperglycinemia 2017-10-04 criteria provided, single submitter clinical testing

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