ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1163-9A>G

gnomAD frequency: 0.00001  dbSNP: rs1368543726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Neuroscience Centre, Sydney Children's Hospitals Network RCV001726493 SCV001571484 pathogenic Autosomal recessive spinocerebellar ataxia 10 criteria provided, single submitter clinical testing A homozygous splicing variant identified in intron 6 of ANO10 results in aberrant splicing. Each abnormal splicing event detected leads to a frameshift and premature truncation of the anoctamin-10 protein. No normally-spliced transcripts were detected. The homozygous ANO10 c.1163-9A>G variant studied may induce other splicing outcomes not detected effectively by approaches used. mRNA studies support the ANO10 c.1163-9A>G variant as a likely pathogenic variant. Autosomal recessive variants in ANO10 are consistent with the phenotype of cerebellar ataxia.
Revvity Omics, Revvity RCV001726493 SCV003813549 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2022-10-07 criteria provided, single submitter clinical testing

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