ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1118+1G>A

dbSNP: rs762730861
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Total submissions: 6
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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
CeGaT Center for Human Genetics Tuebingen RCV001090728 SCV001246417 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab 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

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