ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1848+3C>T

gnomAD frequency: 0.00004  dbSNP: rs763185589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220199 SCV001392175 uncertain significance Koolen-de Vries syndrome 2021-10-02 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the KANSL1 gene. It does not directly change the encoded amino acid sequence of the KANSL1 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs763185589, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001220199 SCV002783559 uncertain significance Koolen-de Vries syndrome 2022-04-21 criteria provided, single submitter clinical testing

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