ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.780-1G>T

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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 RCV004577188 SCV005061084 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 criteria provided, single submitter clinical testing The observed splice acceptor variant c.780-1G>T in ATP8A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.780-1G>T variant is absent in gnomAD Exomes. The variant affects the AG acceptor splice site upstream to exon 10. The variant is predicted to be damaging by SpliceAI Prediction. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Alsahli S, et al., 2018). For these reasons, this variant has been classified as Likely Pathogenic.

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