ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)

gnomAD frequency: 0.02475  dbSNP: rs13408961
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000186262 SCV000429370 benign Primary hyperoxaluria, type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000428366 SCV000511446 benign not provided 2016-09-01 criteria provided, single submitter clinical testing
Center for Precision Medicine, Vanderbilt University Medical Center RCV000186262 SCV000889993 uncertain significance Primary hyperoxaluria, type I 2018-03-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000428366 SCV001722210 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000428366 SCV001861571 benign not provided 2020-03-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492530, 29590070, 27884173, 24205397)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844077 SCV002103345 likely benign not specified 2022-02-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000186262 SCV004563814 benign Primary hyperoxaluria, type I 2023-09-22 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186262 SCV000239586 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186262 SCV001460165 benign Primary hyperoxaluria, type I 2020-09-16 no assertion criteria provided clinical testing

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