ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3031C>T (p.Arg1011Ter)

dbSNP: rs779686052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221185 SCV001393211 pathogenic Koolen-de Vries syndrome 2019-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1011*) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KANSL1-related conditions. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). For these reasons, this variant has been classified as Pathogenic.
PerkinElmer Genomics RCV001221185 SCV002016757 likely pathogenic Koolen-de Vries syndrome 2021-09-22 no assertion criteria provided clinical testing

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