Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001172232 | SCV001491707 | pathogenic | Arginase deficiency | 2021-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 145 of the ARG1 protein (p.Val145Glu). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 916528). This variant is also known as c.458T>A (p.Val153Glu). This missense change has been observed in individual(s) with arginase deficiency (PMID: 33193012). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
Department of Biochemistry, |
RCV001172232 | SCV001334254 | pathogenic | Arginase deficiency | no assertion criteria provided | research |