ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)

dbSNP: rs796052064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186348 SCV000487124 likely pathogenic Primary hyperoxaluria, type I 2016-10-10 criteria provided, single submitter clinical testing
Invitae RCV001857591 SCV002223988 pathogenic not provided 2021-02-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with primary hyperoxaluria (PMID: 25629080). ClinVar contains an entry for this variant (Variation ID: 204141). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp332*) in the AGXT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186348 SCV000239694 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vivo

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