ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046270 SCV001210166 pathogenic Spastic paraplegia 2019-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg401*) in the SACS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769212398, ExAC 0.001%). This variant has not been reported in the literature in individuals with SACS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). For these reasons, this variant has been classified as Pathogenic.
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia RCV001261525 SCV001424045 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing

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