Submissions for variant NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)

dbSNP: rs200219778

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001388991	SCV001590189	pathogenic	not provided	2023-09-29	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1075402). This sequence change creates a premature translational stop signal (p.Glu112*) in the SLC12A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Gitelman’s syndrome (PMID: 11168953). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV001542489	SCV002811669	pathogenic	Familial hypokalemia-hypomagnesemia	2021-09-05	criteria provided, single submitter	clinical testing
Genomics England Pilot Project, Genomics England	RCV001542489	SCV001760374	pathogenic	Familial hypokalemia-hypomagnesemia		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001542489	SCV002089322	pathogenic	Familial hypokalemia-hypomagnesemia	2021-03-24	no assertion criteria provided	clinical testing