ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.1519del (p.Tyr507fs)

dbSNP: rs1298679975
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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 RCV003697323 SCV004467533 pathogenic not provided 2023-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with ANO10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr507Metfs*2) 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 RCV005036944 SCV005664511 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-01-08 criteria provided, single submitter clinical testing

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