Submissions for variant NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr)

gnomAD frequency: 0.00001  dbSNP: rs758304056

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001115547	SCV001273530	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001503745	SCV001708603	likely benign	not provided	2024-01-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001115547	SCV002055311	uncertain significance	Familial hypokalemia-hypomagnesemia	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004671225	SCV005167296	likely benign	Inborn genetic diseases	2024-05-24	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.