ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.776+1G>C

dbSNP: rs180177265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556227 SCV004292192 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 204158). This sequence change affects a donor splice site in intron 7 of the AGXT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 17460142). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186365 SCV000239712 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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