ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) (rs180177227)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169046 SCV000220204 likely pathogenic Primary hyperoxaluria, type I 2014-03-31 criteria provided, single submitter literature only
Invitae RCV001066143 SCV001231142 pathogenic not provided 2019-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 161 of the AGXT protein (p.Gly161Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with primary hyperoxaluria (PMID: 25629080, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 188738). This variant has been reported to affect AGXT protein function (PMID: 17495019, 22018727, 24718375, 24055001). This variant disrupts the p.Gly161 amino acid residue in AGXT. Other variant(s) that disrupt this residue have been observed in individuals with AGXT-related conditions (PMID: 28893421, 15963748), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV001066143 SCV001715798 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing PS3, PM1, PM2, PM5, PP4
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169046 SCV000239646 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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