ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)

gnomAD frequency: 0.00001  dbSNP: rs1057516625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409079 SCV000485969 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-03-10 criteria provided, single submitter clinical testing
Invitae RCV001243148 SCV001416285 pathogenic Spastic paraplegia 2023-06-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 370608). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser397Cysfs*8) 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). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000409079 SCV002027670 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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