ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) (rs121908526)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006001 SCV000790193 likely pathogenic Primary hyperoxaluria, type I 2017-03-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006001 SCV001162945 pathogenic Primary hyperoxaluria, type I criteria provided, single submitter clinical testing
Invitae RCV001070457 SCV001235689 pathogenic not provided 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 233 of the AGXT protein (p.Arg233Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs121908526, ExAC 0.05%). This variant has been observed in several individuals affected with primary hyperoxaluria type I (PMID: 9192270, 25629080, 18282470, 17495019, 10862087). ClinVar contains an entry for this variant (Variation ID: 5647). This variant has been reported to affect AGXT protein function (PMID: 18782763, 18448374). This variant disrupts the p.Arg233 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been observed in individuals with AGXT-related conditions (PMID: 9192270, 25629080, 17460142, 15849466), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006001 SCV000026183 pathogenic Primary hyperoxaluria, type I 1997-06-01 no assertion criteria provided literature only
GeneReviews RCV000006001 SCV000172456 pathogenic Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000006001 SCV000239670 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000006001 SCV001456050 pathogenic Primary hyperoxaluria, type I 2020-09-16 no assertion criteria provided clinical testing

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