ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.847-3C>G (rs180177286)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186376 SCV000486821 pathogenic Primary hyperoxaluria, type I 2016-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000186376 SCV000893592 pathogenic Primary hyperoxaluria, type I 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000186376 SCV000928385 pathogenic Primary hyperoxaluria, type I 2018-07-27 criteria provided, single submitter clinical testing PS4, PM2, PP4, PP5
Invitae RCV000803735 SCV000943620 pathogenic not provided 2019-01-08 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the AGXT gene. It does not directly change the encoded amino acid sequence of the AGXT protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with primary hyperoxaluria (PMID: 20549407). It has also been seen in several homozygous and compound heterozygous individuals affected with primary hyperoxaluria (PMID: 22844106, 25629080, 20549407, 25363903, 10862087). This is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as c.969-3C>G and IVS8-3C>G in the literature. ClinVar contains an entry for this variant (Variation ID: 204169). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186376 SCV000239724 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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