ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)

dbSNP: rs797046024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193929 SCV000249084 pathogenic Autosomal recessive ataxia, Beauce type 2015-02-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289271 SCV001476986 likely pathogenic not provided 2020-07-15 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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