ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) (rs180177225)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186309 SCV000485635 likely pathogenic Primary hyperoxaluria, type I 2016-01-20 criteria provided, single submitter clinical testing
GenePathDx,Causeway Health Care Private Ltd RCV000186309 SCV000616342 likely pathogenic Primary hyperoxaluria, type I 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV001233993 SCV001406618 pathogenic not provided 2019-09-21 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 158 of the AGXT protein (p.Ser158Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 15849466, 17495019, 23430879, 25629080, 30541997). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 204103). This variant has been reported to affect AGXT protein function (PMID: 18782763, 22018727, 22923379). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186309 SCV000239644 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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