ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer)

dbSNP: rs2055411543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216077 SCV001387852 pathogenic not provided 2021-11-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 945435). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 12008755, 30596175). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe846*) 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). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001833882 SCV002089373 pathogenic Familial hypokalemia-hypomagnesemia 2020-01-26 no assertion criteria provided clinical testing

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