Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000002175 | SCV004294881 | pathogenic | Pyruvate carboxylase deficiency | 2023-01-16 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 610 of the PC protein (p.Ala610Thr). For these reasons, this variant has been classified as Pathogenic. 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"). ClinVar contains an entry for this variant (Variation ID: 2094). This missense change has been observed in individual(s) with pyruvate carboxylase deficiency (PMID: 9585612, 30870574). This variant is present in population databases (rs28940589, gnomAD 0.0009%). |
OMIM | RCV000002175 | SCV000022333 | pathogenic | Pyruvate carboxylase deficiency | 1998-06-01 | no assertion criteria provided | literature only |