ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)

dbSNP: rs754378340
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713329 SCV000843926 pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001825428 SCV002810966 pathogenic Familial hypokalemia-hypomagnesemia 2022-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713329 SCV003461712 pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing This variant is present in population databases (rs754378340, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 586604). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 25422309). This sequence change creates a premature translational stop signal (p.Leu854Serfs*21) 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).
Ambry Genetics RCV002534517 SCV003554475 pathogenic Inborn genetic diseases 2021-02-22 criteria provided, single submitter clinical testing The c.2560delC (p.L854Sfs*21) alteration, located in coding exon 22 of the SLC12A3 gene, consists of a deletion of one nucleotide at position 2560, causing a translational frameshift with a predicted alternate stop codon after 21 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This alteration was reported to occur with a second splice site alteration in a male patient diagnosed with Gitelman syndrome (Corbetta, 2015). Based on the available evidence, this alteration is classified as pathogenic.
Natera, Inc. RCV001825428 SCV002089376 pathogenic Familial hypokalemia-hypomagnesemia 2021-03-02 no assertion criteria provided clinical testing

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