ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1244C>G (p.Ser415Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003842865 SCV004642436 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with spinocerebellar ataxia (PMID: 32319254). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser415*) 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).
Fulgent Genetics, Fulgent Genetics RCV005038563 SCV005664513 pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-03-28 criteria provided, single submitter clinical testing

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