ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.725dup (p.Asp243fs)

dbSNP: rs180177257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857595 SCV002246991 pathogenic not provided 2021-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp243Glyfs*12) 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 (ExAC no frequency). This variant has been observed in individual(s) with hyperoxaluria (PMID: 17495019). ClinVar contains an entry for this variant (Variation ID: 204197). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186404 SCV000239754 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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