Submissions for variant NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)

dbSNP: rs774124697

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001235474	SCV001408161	pathogenic	not provided	2024-06-23	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro139Leufs*69) in the SLC7A9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC7A9 are known to be pathogenic (PMID: 11157794, 16838140, 25296721). This variant is present in population databases (rs774124697, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with cystinuria (PMID: 10471498, 25296721). This variant is also known as c.596delTG. ClinVar contains an entry for this variant (Variation ID: 961728). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV002281176	SCV002809680	pathogenic	Cystinuria	2022-05-17	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001235474	SCV004226700	pathogenic	not provided	2022-11-10	criteria provided, single submitter	clinical testing	PM2, PM3, PS4_moderate, PVS1
OMIM	RCV002281176	SCV000026323	pathogenic	Cystinuria	1999-09-01	no assertion criteria provided	literature only