Submissions for variant NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)

gnomAD frequency: 0.00039  dbSNP: rs146720775

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000489698	SCV000577267	uncertain significance	not provided	2020-06-04	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae	RCV000634956	SCV000756330	likely benign	Lysinuric protein intolerance	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000634956	SCV001266543	uncertain significance	Lysinuric protein intolerance	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.
Genome-Nilou Lab	RCV000634956	SCV002045741	uncertain significance	Lysinuric protein intolerance	2021-11-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263700	SCV002542961	uncertain significance	Autoinflammatory syndrome	2021-02-18	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000489698	SCV001742663	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000489698	SCV001926280	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000489698	SCV001971126	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000634956	SCV002091180	uncertain significance	Lysinuric protein intolerance	2020-01-16	no assertion criteria provided	clinical testing