ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.846+1G>T (rs180177281)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806714 SCV000946728 pathogenic not provided 2018-09-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the AGXT gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs180177281, ExAC 0.003%). This variant has been observed in individuals affected with primary hyperoxaluria type 1 (PMID: 15110324, 25296721, 25629080). This variant is also known as IVS8+1G>T in the literature. ClinVar contains an entry for this variant (Variation ID: 204159). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186366 SCV000239713 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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