ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482759 SCV004229774 likely pathogenic not provided 2023-09-06 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).
Invitae RCV003482759 SCV004267350 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ANO10-related conditions. This variant is present in population databases (rs762918406, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Ser587*) in the ANO10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANO10 are known to be pathogenic (PMID: 25089919).

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