ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.124A>T (p.Lys42Ter)

gnomAD frequency: 0.00001  dbSNP: rs768831597
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521272 SCV000620817 likely pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing The K42X variant in the ANO10 gene 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 K42X variant is not observed in large population cohorts (Lek et al., 2016). We interpret K42X as a likely pathogenic variant.
Invitae RCV000521272 SCV004640361 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys42*) 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 (rs768831597, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ANO10-related conditions. ClinVar contains an entry for this variant (Variation ID: 452043). For these reasons, this variant has been classified as Pathogenic.

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