ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1002dup (p.Ile335fs)

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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 RCV003570029 SCV004325521 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile335Tyrfs*45) in the SLC12A6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A6 are known to be pathogenic (PMID: 12368912, 16606917). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. This variant is not present in population databases (gnomAD no frequency).

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