ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)

dbSNP: rs35583475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409555 SCV000485952 likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy 2016-03-03 criteria provided, single submitter clinical testing
Invitae RCV003698783 SCV004459443 pathogenic not provided 2023-05-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr321*) 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. ClinVar contains an entry for this variant (Variation ID: 370595). This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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