ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)

gnomAD frequency: 0.00001  dbSNP: rs180177294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186344 SCV000487246 likely pathogenic Primary hyperoxaluria, type I 2016-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516974 SCV003525305 pathogenic not provided 2022-10-26 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: 204137). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 17460142). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln303*) 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 RCV000186344 SCV000239690 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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