Submissions for variant NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)

gnomAD frequency: 0.00051  dbSNP: rs151185188

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000186266	SCV001300478	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV001753585	SCV001988339	uncertain significance	not provided	2023-04-14	criteria provided, single submitter	clinical testing	Reported as heterozygous (along with benign variants) in an infant with neonatal convulsions and elevated urinary oxalic acid who responded to pyridoxine (Guevara-Campos et al., 2008); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29590070, 19245173)
Invitae	RCV001753585	SCV002322556	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory	RCV000186266	SCV000239591	uncertain significance	Primary hyperoxaluria, type I	2014-11-27	no assertion criteria provided	research