Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412092 | SCV000485376 | likely pathogenic | Agenesis of the corpus callosum with peripheral neuropathy | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090728 | SCV001246417 | pathogenic | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000412092 | SCV002055415 | pathogenic | Agenesis of the corpus callosum with peripheral neuropathy | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090728 | SCV002244589 | pathogenic | not provided | 2023-06-19 | criteria provided, single submitter | clinical testing | 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370139). Disruption of this splice site has been observed in individual(s) with agenesis of the corpus callosum with peripheral neuropathy (PMID: 20020398). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs762730861, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 8 of the SLC12A6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC12A6 are known to be pathogenic (PMID: 12368912, 16606917). |
Baylor Genetics | RCV000412092 | SCV004201156 | pathogenic | Agenesis of the corpus callosum with peripheral neuropathy | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000789681 | SCV000929056 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |