Submissions for variant NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter)

dbSNP: rs760134110

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV001288431	SCV001475522	pathogenic	not provided	2019-10-24	criteria provided, single submitter	clinical testing	The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001288431	SCV001579003	pathogenic	not provided	2020-01-30	criteria provided, single submitter	clinical testing	This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp948*) in the SLC12A3 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This nonsense change has been observed in individual(s) with Gitelman syndrome (PMID: 30413979). This nonsense change is also known as W939X in the literature.
Genome-Nilou Lab	RCV001807396	SCV002055351	pathogenic	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP	RCV001807396	SCV002513825	pathogenic	Familial hypokalemia-hypomagnesemia	2022-04-27	criteria provided, single submitter	clinical testing	ACMG criteria used:PVS1 PS1 PM1 PM2