ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1652+1G>A

dbSNP: rs281865470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482618 SCV000568253 pathogenic not provided 2023-06-16 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34486251, 22544363, 26293599, 25533962, 28191890, 26306646, 31785789, 27535533)
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000024374 SCV004100545 pathogenic Koolen-de Vries syndrome 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). The c.1652+1G>A variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant mutates a splice-donor sequence, potentially resulting in the retention of large segments of intronic DNA by the mRNA and nonfunctional proteins. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024374 SCV000045667 pathogenic Koolen-de Vries syndrome 2012-04-29 no assertion criteria provided literature only
GeneReviews RCV000024374 SCV000055760 not provided Koolen-de Vries syndrome no assertion provided literature only

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