ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) (rs180177156)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169365 SCV000220737 likely pathogenic Primary hyperoxaluria, type I 2014-09-25 criteria provided, single submitter literature only
Invitae RCV001067841 SCV001232922 likely pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 350 of the AGXT protein (p.Gly350Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs180177156, ExAC 0.04%). This variant has been observed in several individuals affected with hyperoxaluria (PMID: 9604803, 30341509, 23551880). ClinVar contains an entry for this variant (Variation ID: 188986). This variant has been reported to affect AGXT protein function (PMID: 22923379, 22018727, 30341509). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169365 SCV000239699 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Sydney Genome Diagnostics,Children's Hospital Westmead RCV001328117 SCV001449178 pathogenic Primary hyperoxaluria 2018-10-24 no assertion criteria provided clinical testing This patient is homozygous for a known pathogenic variant, c.1049G>A p.(Gly350Asp), in the AGXT gene. This variant (dbSNP: rs180177156) has been previously reported in the homozygote form in a patient with primary hyperoxaluria type I (Rao et al 2014 J Neuroimaging 24:411-3).

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