ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.450_451del (p.Asp150fs)

dbSNP: rs1413414501
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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 RCV003580071 SCV004354552 pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp150Glufs*4) in the SLC12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A1 are known to be pathogenic (PMID: 8640224, 9585600, 19096086). This variant is present in population databases (no rsID available, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Bartter syndrome (PMID: 29942493). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003664 SCV005630852 likely pathogenic Bartter disease type 1 2024-03-12 criteria provided, single submitter clinical testing

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