ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.524_525del (p.Val175fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003578220 SCV004330305 pathogenic not provided 2023-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val175Glufs*61) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC12A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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