Submissions for variant NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)

gnomAD frequency: 0.00048  dbSNP: rs147200024

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001119951	SCV001278406	uncertain significance	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000681930	SCV001872861	uncertain significance	not provided	2023-10-11	criteria provided, single submitter	clinical testing	Reported in association with Gitelman syndrome in the published literature; however, additional clinical information and segregation information were not provided and it is unknown if a second variant was identified (PMID: 22679066); Reported along with a second variant in the SLC12A3 gene in a patient with Gitelman syndrome in the published literature; however, segregation information was not provided (PMID: 31672324); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28469853, 21415153, 34426522, 31589614, 31672324, 22679066)
Genome-Nilou Lab	RCV001119951	SCV002055361	uncertain significance	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001119951	SCV002791965	uncertain significance	Familial hypokalemia-hypomagnesemia	2022-04-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000681930	SCV003224247	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004026174	SCV004951093	likely benign	Inborn genetic diseases	2021-12-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic	RCV000681930	SCV005411324	uncertain significance	not provided	2023-10-05	criteria provided, single submitter	clinical testing	BP2, BP4
Gharavi Laboratory, Columbia University	RCV000681930	SCV000809414	likely pathogenic	not provided	2018-09-16	no assertion criteria provided	research
GenomeConnect, ClinGen	RCV001119951	SCV002075020	not provided	Familial hypokalemia-hypomagnesemia		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 03-22-2020 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc.	RCV001119951	SCV002089316	uncertain significance	Familial hypokalemia-hypomagnesemia	2020-01-17	no assertion criteria provided	clinical testing