ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)

dbSNP: rs121908528
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003555933 SCV004292191 pathogenic not provided 2023-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 5649). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 9192270). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp246*) 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).
OMIM RCV000006003 SCV000026185 pathogenic Primary hyperoxaluria, type I 1997-06-01 no assertion criteria provided literature only
GeneReviews RCV000006003 SCV000172458 not provided Primary hyperoxaluria, type I no assertion provided literature only
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000006003 SCV000239676 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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