ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2837+2T>C

dbSNP: rs975947508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215137 SCV001386865 pathogenic Koolen-de Vries syndrome 2019-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual with clinical features of Koolen-De Vries Syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 13 of the KANSL1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
GenomeConnect - Brain Gene Registry RCV001215137 SCV003804792 not provided Koolen-de Vries syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 07-09-2019 by Invitae . Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Philip Payne PhD, FACMI from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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