ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)

dbSNP: rs180177303
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382062 SCV001580669 pathogenic not provided 2019-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in multiple individuals affected with primary hyperoxaluria, type 1 (PMID: 10541294, 27644547, Invitae). ClinVar contains an entry for this variant (Variation ID: 204142). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg333*) in the AGXT gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity Omics RCV000186349 SCV003816741 pathogenic Primary hyperoxaluria, type I 2022-06-28 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186349 SCV000239695 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186349 SCV002076483 pathogenic Primary hyperoxaluria, type I 2021-03-15 no assertion criteria provided clinical testing

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