Submissions for variant NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)

gnomAD frequency: 0.01075  dbSNP: rs36049418

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455191	SCV000540355	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 188/12996=1.44%
Illumina Laboratory Services, Illumina	RCV001120452	SCV001278936	likely benign	Familial hypokalemia-hypomagnesemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001120452	SCV001435124	benign	Familial hypokalemia-hypomagnesemia		criteria provided, single submitter	research	The heterozygous p.Ala728Thr variant in SLC12A3 has been identified in an individual from the Philippines with Gitelman syndrome (PMID: 8528245), but has also been identified in >1% of European (non-Finnish) chromosomes and 27 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive Gitelman syndrome.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520029	SCV001729023	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001520029	SCV001757212	benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533, 27884173, 8528245, 20981092, 24633158)
Genome-Nilou Lab	RCV001120452	SCV002055378	benign	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001520029	SCV004010490	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	SLC12A3: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001520029	SCV005216522	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000455191	SCV001929413	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000455191	SCV001955199	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001120452	SCV002089370	benign	Familial hypokalemia-hypomagnesemia	2019-10-25	no assertion criteria provided	clinical testing