ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2821del (p.Gln941fs)

dbSNP: rs2146314756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001963272 SCV002238573 pathogenic Koolen-de Vries syndrome 2021-10-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln941Serfs*73) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367).
PreventionGenetics, part of Exact Sciences RCV003408019 SCV004109005 likely pathogenic KANSL1-related condition 2023-05-14 criteria provided, single submitter clinical testing The KANSL1 c.2821delC variant is predicted to result in a frameshift and premature protein termination (p.Gln941Serfs*73). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in KANSL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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