ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs531656357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414687 SCV000491883 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing The c.2 T>C variant in the ANO10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. As this variant changes the translation initiator Methionine codon, the resultant protein is described as p.Met1?, using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine. The c.2 T>C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2 T>C as a pathogenic variant.
Athena Diagnostics RCV000414687 SCV000840782 likely pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005033944 SCV005664531 likely pathogenic Autosomal recessive spinocerebellar ataxia 10 2024-05-31 criteria provided, single submitter clinical testing

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