ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.3333+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340797 SCV004047521 uncertain significance Cerebral palsy, spastic quadriplegic, 2 criteria provided, single submitter clinical testing The c.3333+1G>A splice donor variant in KANK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3333+1G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes.KANK1 deletions inherited from the paternal allele have been reported to be disease causing. The gene is tolerant to loss of function variants.Hence the variant has been classified as Uncertain Significance. The above variant was not detected in the parents of the proband.

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