ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2203+18G>A

gnomAD frequency: 0.00001  dbSNP: rs764721407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615568 SCV000715776 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062929 SCV002388690 likely benign Koolen-de Vries syndrome 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000615568 SCV004223198 likely benign not specified 2023-11-03 criteria provided, single submitter clinical testing Variant summary: KIAA1267 (KANSL1) c.2203+18G>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.2e-05 in 1603620 control chromosomes. To our knowledge, no occurrence of c.2203+18G>A in individuals affected with Koolen-De Vries Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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