Total submissions: 2
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%). |