ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.699del (p.Asp235fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute,Inserm - ICM RCV001391615 SCV001451175 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001287911 SCV001474676 pathogenic not provided 2020-07-02 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

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