ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) (rs150171524)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622676 SCV000741326 pathogenic Inborn genetic diseases 2016-01-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000666682 SCV000791016 uncertain significance Non-ketotic hyperglycinemia 2017-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000666682 SCV001137745 pathogenic Non-ketotic hyperglycinemia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000666682 SCV001381409 pathogenic Non-ketotic hyperglycinemia 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 373 of the GLDC protein (p.Arg373Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs150171524, ExAC 0.006%). This variant has been observed in individual(s) with glycine encephalopathy (PMID: 16601880, 28244183). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 520959). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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