ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) (rs180177197)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169249 SCV000220531 likely pathogenic Primary hyperoxaluria, type I 2014-07-19 criteria provided, single submitter literature only
Invitae RCV000812967 SCV000953297 pathogenic not provided 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 108 of the AGXT protein (p.Trp108Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is present in population databases (rs180177197, ExAC 0.002%). This variant has been observed in several individuals affected with AGXT-related conditions (PMID: 9604803, 15961946, 27935012, Invitae). ClinVar contains an entry for this variant (Variation ID: 188891). This variant has been reported to affect AGXT protein function (PMID: 24718375, 22018727, 18448374). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169249 SCV000239625 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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