Submissions for variant NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter)

dbSNP: rs761692493

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001389306	SCV001590622	pathogenic	not provided	2023-09-01	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln965*) 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 (rs761692493, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 23328711). ClinVar contains an entry for this variant (Variation ID: 1075648). 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.
Fulgent Genetics, Fulgent Genetics	RCV002493932	SCV002801863	pathogenic	Familial hypokalemia-hypomagnesemia	2022-03-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001389306	SCV004033493	pathogenic	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SLC12A3: PVS1, PM2, PM3