Submissions for variant NM_000030.3(AGXT):c.557C>T (p.Ala186Val)

gnomAD frequency: 0.00231  dbSNP: rs117195882

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186223	SCV000239547	likely benign	Primary hyperoxaluria, type I	2023-10-27	criteria provided, single submitter	clinical testing	Found in cis with c.590G>A in 2 unrelated individuals. ACMG:PM2 PP3 BP2 BP5
Illumina Laboratory Services, Illumina	RCV000186223	SCV000429364	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga)	RCV000597486	SCV000700570	benign	not specified	2015-08-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514943	SCV001722913	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001514943	SCV001855663	benign	not provided	2020-04-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30341509, 33457257)
Fulgent Genetics, Fulgent Genetics	RCV000186223	SCV002800017	likely benign	Primary hyperoxaluria, type I	2022-04-16	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001514943	SCV005261959	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000186223	SCV002076463	benign	Primary hyperoxaluria, type I	2019-11-15	no assertion criteria provided	clinical testing