ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)

dbSNP: rs121908521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003555932 SCV004292180 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr66*) 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 present in population databases (rs121908521, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria type I (PMID: 1879825). ClinVar contains an entry for this variant (Variation ID: 5642). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005996 SCV000026178 pathogenic Primary hyperoxaluria, type I 1991-12-01 no assertion criteria provided literature only
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000005996 SCV000239614 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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