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: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689777 SCV005184939 pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-05-10 criteria provided, single submitter clinical testing Variant summary: ANO10 c.124A>T (p.Lys42X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 251318 control chromosomes. To our knowledge, no occurrence of c.124A>T in individuals affected with Spinocerebellar ataxia 10 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 452043). Based on the evidence outlined above, the variant was classified as pathogenic.

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