Submissions for variant NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)

gnomAD frequency: 0.00001  dbSNP: rs121912697

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000019750	SCV001301188	uncertain significance	Cystinuria	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics	RCV000019750	SCV002809373	uncertain significance	Cystinuria	2022-03-07	criteria provided, single submitter	clinical testing
OMIM	RCV000019750	SCV000040048	pathogenic	Cystinuria	2003-04-01	no assertion criteria provided	literature only
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	RCV000019750	SCV005368652	pathogenic	Cystinuria	2024-08-26	no assertion criteria provided	clinical testing	Variant_type:missense/MutationTaster:Disease_causing_automatic/CADD:Damaging/phyloP:Conserved/phastCons:Conserved/gnomAD_exome_EastAsian:0.00005799/ExAC_EastAsian:0/dbSNP:rs121912697