ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn)

gnomAD frequency: 0.00146  dbSNP: rs138698439
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438080 SCV000510863 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000474219 SCV000559733 benign Koolen-de Vries syndrome 2021-12-02 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000474219 SCV000898763 uncertain significance Koolen-de Vries syndrome 2017-10-11 criteria provided, single submitter clinical testing KANSL1 NM_001193466.1 exon 6 p.Ser609Asn (c.1826G>A): This variant has not been reported in the literature but is present in 0.4% (115/24030) of African alleles in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:376914). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Athena Diagnostics Inc RCV000438080 SCV001144289 benign not provided 2019-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000438080 SCV001861340 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30924900)

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