ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.1652+1G>A (rs281865470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482618 SCV000568253 pathogenic not provided 2018-05-24 criteria provided, single submitter clinical testing The c.1652+1G>A variant in the KANSL1 gene has been reported previously in association with Koolen-de Vries syndrome (Koolen et al., 2012). This splice site variant destroys the canonical splice donor site in intron 5. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1652+1G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1652+1G>A as a pathogenic variant
OMIM RCV000024374 SCV000045667 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024374 SCV000055760 pathologic Koolen-de Vries syndrome 2012-11-20 no assertion criteria provided curation Converted during submission to Pathogenic.

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