ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2203+1G>A

dbSNP: rs796052595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187783 SCV000241380 pathogenic not provided 2014-01-27 criteria provided, single submitter clinical testing This variant is denoted c.2203+1 G>A: IVS8+1 G>A in intron 8 of the KANSL1 gene (NM_001193466.1). The c.2203+1 G>A mutation in the KANSL1 gene 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. The c.2203+1 G>A mutation destroys the canonical splice donor site in intron 8 and is expected to lead to abnormal gene splicing. This mutation is predicted to lead to either an abnormal message which is subject to nonsense-mediated mRNA decay or to an abnormal protein product if the message is used for protein translation. Therefore, the presence of c.2203+1 G>A is consistent with a diagnosis of a KANSL1-related disorder. The variant is found in INFANT-EPI panel(s).

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