Submissions for variant NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)

gnomAD frequency: 0.00001  dbSNP: rs121908679

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000006592	SCV000940172	pathogenic	Lysinuric protein intolerance	2024-01-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp242*) in the SLC7A7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC7A7 are known to be pathogenic (PMID: 10631139, 17764084). This variant is present in population databases (rs121908679, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with lysinuricprotein intolerance (PMID: 10631139, 17530437). ClinVar contains an entry for this variant (Variation ID: 6214). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University	RCV000006592	SCV001448854	pathogenic	Lysinuric protein intolerance	2018-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000006592	SCV002045731	pathogenic	Lysinuric protein intolerance	2021-11-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262560	SCV002542958	pathogenic	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000006592	SCV002777750	pathogenic	Lysinuric protein intolerance	2022-02-16	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000006592	SCV004202517	pathogenic	Lysinuric protein intolerance	2023-09-07	criteria provided, single submitter	clinical testing
OMIM	RCV000006592	SCV000026775	pathogenic	Lysinuric protein intolerance	2008-01-01	no assertion criteria provided	literature only
GeneReviews	RCV000006592	SCV001167330	not provided	Lysinuric protein intolerance		no assertion provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723545	SCV001957534	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723545	SCV001972935	pathogenic	not provided		no assertion criteria provided	clinical testing