ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2132dup (p.Met711fs)

dbSNP: rs1555734136
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537695 SCV000645043 pathogenic Koolen-de Vries syndrome 2017-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met711Ilefs*11) 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 disease. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). For these reasons, this variant has been classified as Pathogenic.

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