ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.358+2T>G

gnomAD frequency: 0.00001  dbSNP: rs113681235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384604 SCV001584161 pathogenic not provided 2022-09-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 204152). Disruption of this splice site has been observed in individual(s) with primary hyperoxaluria type 1 (PMID: 15961946). This variant is present in population databases (rs113681235, gnomAD 0.001%).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186359 SCV000239706 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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