Submissions for variant NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)

gnomAD frequency: 0.00009  dbSNP: rs139619724

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000304433	SCV000385473	uncertain significance	Lysinuric protein intolerance	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000304433	SCV001118347	likely benign	Lysinuric protein intolerance	2024-01-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000304433	SCV002045720	likely benign	Lysinuric protein intolerance	2021-11-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262975	SCV002542948	uncertain significance	Autoinflammatory syndrome	2020-03-01	criteria provided, single submitter	clinical testing