ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1306+1G>C

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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 RCV003340702 SCV004047357 likely pathogenic Kufor-Rakeb syndrome criteria provided, single submitter clinical testing The splice site variant c.1306+1G>C in ATP13A2 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1306+1G>C variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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