ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) (rs180177207)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169408 SCV000220811 likely pathogenic Primary hyperoxaluria, type I 2014-10-16 criteria provided, single submitter literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000169408 SCV000891624 likely pathogenic Primary hyperoxaluria, type I 2017-12-30 criteria provided, single submitter curation
Invitae RCV001236818 SCV001409555 likely pathogenic not provided 2019-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 116 of the AGXT protein (p.Gly116Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with primary hyperoxaluria (PMID: 17460142, 25629080, 10453743, 26252291). ClinVar contains an entry for this variant (Variation ID: 189021). 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169408 SCV000239632 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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