ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.679_680+2del

gnomAD frequency: 0.00001  dbSNP: rs180177255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070865 SCV001236143 pathogenic not provided 2023-09-25 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with hyperoxaluria (PMID: 11708860). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 679-(IVS6+2)delAAgt . ClinVar contains an entry for this variant (Variation ID: 204195). For these reasons, this variant has been classified as Pathogenic. This variant results in the deletion of part of exon 6 (c.679_680+2del) 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 present in population databases (rs180177255, gnomAD 0.02%).
Baylor Genetics RCV000186402 SCV004192916 pathogenic Primary hyperoxaluria, type I 2022-05-16 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186402 SCV000239752 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186402 SCV002076475 pathogenic Primary hyperoxaluria, type I 2021-09-06 no assertion criteria provided clinical testing

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