ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) (rs201135624)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491317 SCV000299218 pathogenic Smith-Magenis Syndrome-like 2016-08-15 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000284142 SCV000480504 uncertain significance Non-ketotic hyperglycinemia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000284142 SCV000794700 uncertain significance Non-ketotic hyperglycinemia 2017-10-24 criteria provided, single submitter clinical testing
Invitae RCV000284142 SCV000833948 uncertain significance Non-ketotic hyperglycinemia 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 647 of the GLDC protein (p.Pro647Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs201135624, ExAC 0.03%). This variant has been reported in combination with a second GLDC variant in an individual affected with Smith-Magenis like phenotype (PMID: 27799067). ClinVar contains an entry for this variant (Variation ID: 254211). 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.

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