Submissions for variant NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)

gnomAD frequency: 0.00019  dbSNP: rs11568423

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000326397	SCV000385476	likely benign	Lysinuric protein intolerance	2018-01-12	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000326397	SCV000756334	likely benign	Lysinuric protein intolerance	2024-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262977	SCV002542946	uncertain significance	Autoinflammatory syndrome	2021-12-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003969876	SCV004794880	likely benign	SLC7A7-related disorder	2023-12-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV000326397	SCV001454411	likely benign	Lysinuric protein intolerance	2020-04-17	no assertion criteria provided	clinical testing