ClinVar Miner

Submissions for variant NM_000170.2(GLDC):c.1652G>T (p.Ser551Ile) (rs751822565)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670627 SCV000795502 likely pathogenic Non-ketotic hyperglycinemia 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000670627 SCV000953573 pathogenic Non-ketotic hyperglycinemia 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 551 of the GLDC protein (p.Ser551Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is present in population databases (rs751822565, ExAC 0.002%). This variant has been observed in individuals with glycine encephalopathy (PMID: 27362913). 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: 554912). 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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