ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.964+1G>T

dbSNP: rs1596895536
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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 RCV001233053 SCV001405631 pathogenic not provided 2022-04-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the SLC12A3 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Gitelman syndrome (PMID: 17329572, 31672324). ClinVar contains an entry for this variant (Variation ID: 959666). Studies have shown that disruption of this splice site results in exon 7 and introduces a premature termination codon (PMID: 17329572). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP RCV002245892 SCV002513850 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PVS1 PS4 PM1 PM2 PM3 PP3 PP5

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