ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.577del (p.Leu193fs) (rs180177241)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186398 SCV000486725 likely pathogenic Primary hyperoxaluria, type I 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV001238262 SCV001411063 pathogenic not provided 2019-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu193Phefs*19) in the AGXT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754693216, ExAC 0.01%). This variant has been observed in individuals affected with hyperoxaluria (PMID: 30488096). ClinVar contains an entry for this variant (Variation ID: 204191). Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186398 SCV000239748 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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