ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) (rs180177253)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169358 SCV000220729 likely pathogenic Primary hyperoxaluria, type I 2014-09-24 criteria provided, single submitter literature only
Invitae RCV001386996 SCV001587463 pathogenic not provided 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 218 of the AGXT protein (p.Ser218Leu). The serine residue is moderately 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 to be homozygous in individuals affected with primary hyperoxaluria type I (PMID: 15963748). ClinVar contains an entry for this variant (Variation ID: 188979). This variant has been reported to affect AGXT protein function (PMID: 22018727). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001386996 SCV001715800 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM2, PP1, PP4
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169358 SCV000239668 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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