ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) (rs180177157)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169332 SCV000220673 likely pathogenic Primary hyperoxaluria, type I 2014-09-05 criteria provided, single submitter literature only
Invitae RCV001054309 SCV001218618 pathogenic not provided 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 36 of the AGXT protein (p.Arg36Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs180177157, ExAC 0.01%). This variant has been observed in individual(s) with primary hyperoxaluria (PMID: 24988064, 15356974). ClinVar contains an entry for this variant (Variation ID: 188957). This variant has been reported to affect AGXT protein function (PMID: 17495019, 24718375, 22923379). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169332 SCV000239603 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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