Total submissions: 2
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. |