ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)

dbSNP: rs180177259
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169425 SCV000220834 likely pathogenic Primary hyperoxaluria, type I 2014-10-23 criteria provided, single submitter literature only
Baylor Genetics RCV000169425 SCV004194828 pathogenic Primary hyperoxaluria, type I 2023-06-22 criteria provided, single submitter clinical testing
Invitae RCV003556212 SCV004292190 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 17495019). ClinVar contains an entry for this variant (Variation ID: 189035). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000169425 SCV000239675 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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