ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) (rs774906736)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458276 SCV000552970 pathogenic Spastic paraplegia 2016-07-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the SACS mRNA at codon 3903 (p.Arg3903*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated SACS protein. Truncating variants in SACS are known to be pathogenic. This particular variant has been reported to segregate in multiple families affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 19892370, 21745802). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000624366 SCV000742596 pathogenic Inborn genetic diseases 2017-05-26 criteria provided, single submitter clinical testing

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