ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.673_676del (p.Lys225fs)

dbSNP: rs1057516896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410991 SCV000486397 likely pathogenic Primary hyperoxaluria, type I 2016-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850952 SCV002230022 pathogenic not provided 2022-04-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys225Profs*47) in the AGXT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AGXT are known to be pathogenic (PMID: 19479957). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AGXT-related conditions. ClinVar contains an entry for this variant (Variation ID: 370958). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000410991 SCV002794409 likely pathogenic Primary hyperoxaluria, type I 2022-02-03 criteria provided, single submitter clinical testing

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