Submissions for variant NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)

gnomAD frequency: 0.15412  dbSNP: rs4426527

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247828	SCV000301564	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247828	SCV000343450	benign	not specified	2016-06-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000032682	SCV000429374	benign	Primary hyperoxaluria, type I	2018-03-06	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.
Mendelics	RCV000032682	SCV001136276	likely benign	Primary hyperoxaluria, type I	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001519689	SCV001728600	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000032682	SCV001761749	benign	Primary hyperoxaluria, type I	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001519689	SCV001856932	benign	not provided	2018-08-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 1703535, 33457257, 24205397, 30341509, 28906061, 15802217)
Fulgent Genetics, Fulgent Genetics	RCV000032682	SCV002808379	likely benign	Primary hyperoxaluria, type I	2021-11-17	criteria provided, single submitter	clinical testing
OMIM	RCV000032682	SCV000056445	benign	Primary hyperoxaluria, type I	2004-09-01	no assertion criteria provided	literature only
GeneReviews	RCV000032682	SCV000172448	not provided	Primary hyperoxaluria, type I		no assertion provided	literature only
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000032682	SCV000239589	uncertain significance	Primary hyperoxaluria, type I	2014-11-27	no assertion criteria provided	in vitro
Natera, Inc.	RCV000032682	SCV002076484	benign	Primary hyperoxaluria, type I	2019-10-30	no assertion criteria provided	clinical testing