ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV003445259 SCV004171761 likely pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PP4 PP5
Department of Genetics, Suzhou Beikang Medical Laboratory RCV003445259 SCV005387814 pathogenic Primary hyperoxaluria, type I 2024-10-31 no assertion criteria provided clinical testing The c.34_35dup pathogenic mutation, located in the first exon of the AGXT gene, causing a translational frameshift with a predicted alternate stop codon (p.Ala13Argfs*34). This mutation has been identified in individual(s) with primary Hyperoxaluria type 1 (PMID:25644115). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID:2664113). For these reasons, this variant has been classified as Pathogenic.

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