ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337918 SCV004048350 uncertain significance Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing The frameshift variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. Loss of function variants have been previously reported to be disease causing. However since this variant is present in the last exon functional studies will be required to prove protein truncation. For these reasons, the variant is classified as Uncertain Significance.

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