ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) (rs146525143)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000186335 SCV000914912 uncertain significance Primary hyperoxaluria, type I 2018-10-22 criteria provided, single submitter clinical testing The AGXT c.822G>C (p.Glu274Asp) variant is a missense variant has been reported in a homozygous state in at least one individual with primary hyperoxaluria (Williams et al. 2009; Williams et al. 2015). The p.Glu274Asp variant is reported at a frequency of 0.000265 in the East Asian population of the Genome Aggregation Database. Functional studies in yeast and bacteria revealed that the p.Glu274Asp variant in the background of a well-known AGXT variant protein, had significantly reduced activity when compared to the wild type expressed in the same background (Lage et al. 2014). The evidence for this variant is limited. The p.Glu274Asp variant is classified as unknown significance but suspicious for pathogenicity for primary hyperoxaluria. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186335 SCV000239681 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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