ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.741+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1187506921
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001231978 SCV001404517 pathogenic not provided 2023-11-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SLC12A3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This variant is present in population databases (no rsID available, gnomAD 0.002%). Disruption of this splice site has been observed in individuals with Gitelman syndrome (PMID: 12772080, 18391953). ClinVar contains an entry for this variant (Variation ID: 958758). 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.
MGZ Medical Genetics Center RCV001828849 SCV002580033 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001828849 SCV002788953 pathogenic Familial hypokalemia-hypomagnesemia 2021-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828849 SCV002089335 pathogenic Familial hypokalemia-hypomagnesemia 2020-11-25 no assertion criteria provided clinical testing

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