ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)

gnomAD frequency: 0.00001  dbSNP: rs772345347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598963 SCV000710277 likely pathogenic not provided 2017-12-29 criteria provided, single submitter clinical testing The M97X variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The M97X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016).
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644702 SCV001519096 pathogenic Autosomal recessive spinocerebellar ataxia 10 2021-01-04 criteria provided, single submitter research
Invitae RCV000598963 SCV004540334 pathogenic not provided 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met97*) 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). This variant is present in population databases (rs772345347, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with ANO10-related conditions (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 503974). For these reasons, this variant has been classified as Pathogenic.

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