Submissions for variant NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)

gnomAD frequency: 0.00287  dbSNP: rs140317484

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880749	SCV001023868	likely benign	Cystinuria	2023-11-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000880749	SCV001297876	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.
CeGaT Center for Human Genetics Tuebingen	RCV001357966	SCV004146016	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SLC3A1: BS2
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357966	SCV001553580	uncertain significance	not provided		no assertion criteria provided	clinical testing
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University	RCV000880749	SCV005368669	likely pathogenic	Cystinuria	2024-08-26	no assertion criteria provided	clinical testing	Variant_type:missense/MutationTaster:Disease_causing/CADD:Damaging/phyloP:Conserved/phastCons:Conserved/gnomAD_exome_EastAsian:0.00005798/ExAC_EastAsian:0/dbSNP:rs140317484