ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.577del (p.Leu193fs)

dbSNP: rs180177241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186398 SCV000486725 likely pathogenic Primary hyperoxaluria, type I 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV001238262 SCV001411063 pathogenic not provided 2021-08-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844078 SCV002104105 pathogenic Primary hyperoxaluria 2022-02-25 criteria provided, single submitter clinical testing Variant summary: AGXT c.577delC (p.Leu193PhefsX19) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249482 control chromosomes. c.577delC has been reported in the literature in individuals affected with Primary Hyperoxaluria Type 1 (Williams_2015, Chen_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186398 SCV000239748 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186398 SCV002076465 pathogenic Primary hyperoxaluria, type I 2020-02-21 no assertion criteria provided clinical testing

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