Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513967 | SCV003524993 | uncertain significance | not provided | 2022-03-26 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 19479957). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 282 of the AGXT protein (p.Gln282Arg). ClinVar contains an entry for this variant (Variation ID: 204053). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies have shown that this missense change does not substantially affect AGXT function (PMID: 24718375). 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 tolerated. |
Clinical Biochemistry Laboratory, |
RCV000186259 | SCV000239583 | uncertain significance | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | research |