ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.839C>T (p.Ala280Val)

dbSNP: rs73106685
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946704 SCV001092852 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000186258 SCV001297135 benign Primary hyperoxaluria, type I 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000946704 SCV001826672 likely benign not provided 2020-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917705 SCV004729953 benign AGXT-related condition 2019-03-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186258 SCV000239582 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000186258 SCV001462989 benign Primary hyperoxaluria, type I 2019-12-02 no assertion criteria provided clinical testing

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