ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.122G>T (p.Gly41Val) (rs180177168)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169364 SCV000220736 likely pathogenic Primary hyperoxaluria, type I 2014-09-26 criteria provided, single submitter literature only
Invitae RCV001386862 SCV001587246 pathogenic not provided 2020-08-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 41 of the AGXT protein (p.Gly41Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another AGXT variant in an individual affected with hyperoxaluria (PMID: 10453743). ClinVar contains an entry for this variant (Variation ID: 188985). This variant has been reported to affect AGXT protein function (PMID: 15802217, 21176891, 20133649, 16971151, 18448374). This variant disrupts the p.Gly41 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8101040, 15802217, 20133649, 23229545). 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.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169364 SCV000239607 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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