ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter) (rs796052603)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187802 SCV000241399 likely pathogenic not provided 2015-01-14 criteria provided, single submitter clinical testing This variant is denoted p.Gln396Ter (CAG>TAG): c.1186 C>T in exon 2 of the KANSL1 gene (NM_001193466.1). The Q396X variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nonsense mutations in the KANSL1 gene have been reported in association with Koolen-DeVries syndrome. The Q396X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSYV2-1 panel(s).
Invitae RCV001317571 SCV001508240 uncertain significance Koolen-de Vries syndrome 2020-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln396*) 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 been observed in individual(s) with epilepsy and/or neurodevelopmental disorders (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 205814). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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