ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs769212398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046270 SCV001210166 pathogenic Spastic paraplegia 2022-08-03 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. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant is present in population databases (rs769212398, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SACS-related conditions. ClinVar contains an entry for this variant (Variation ID: 843602). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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
Genome-Nilou Lab RCV001261525 SCV002027669 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genomic Diagnostics Laboratory, National Institute of Medical Genomics RCV001261525 SCV002102830 pathogenic Charlevoix-Saguenay spastic ataxia 2016-01-01 criteria provided, single submitter clinical testing

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