ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.337+1G>A

gnomAD frequency: 0.00003  dbSNP: rs765592794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193666 SCV000246417 pathogenic Autosomal recessive spinocerebellar ataxia 10 2014-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221843 SCV003916808 pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing ANO10: PVS1, PM2
Invitae RCV003221843 SCV004509263 likely pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the ANO10 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ANO10 are known to be pathogenic (PMID: 25089919). This variant is present in population databases (rs765592794, gnomAD 0.008%). Disruption of this splice site has been observed in individual(s) with spinocerebellar ataxia (PMID: 30515630). ClinVar contains an entry for this variant (Variation ID: 210186). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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