ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.698G>A (p.Arg233His) (rs121908527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006002 SCV000486360 likely pathogenic Primary hyperoxaluria, type I 2016-05-24 criteria provided, single submitter clinical testing
Invitae RCV001385647 SCV001585584 pathogenic not provided 2020-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 233 of the AGXT protein (p.Arg233His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121908527, ExAC 0.002%). This variant has been observed to be homozygous or in combination with another AGXT variant in individuals with clinical features of primary hyperoxaluria (PMID: 17495019, 9192270, 25629080). ClinVar contains an entry for this variant (Variation ID: 5648). This variant has been reported to affect AGXT protein function (PMID: 18448374,17495019). This variant disrupts the p.Arg233 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9192270, 25629080, 18282470, 17495019, 18448374). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006002 SCV000026184 pathogenic Primary hyperoxaluria, type I 1997-06-01 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000006002 SCV000239671 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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