ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)

dbSNP: rs1555252086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674844 SCV000800245 likely pathogenic Charlevoix-Saguenay spastic ataxia 2018-05-30 criteria provided, single submitter clinical testing
Invitae RCV001204188 SCV001375384 pathogenic Spastic paraplegia 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SACS protein in which other variant(s) (p.Arg3903*) have been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 558554). 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.Ile1867Trpfs*29) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2713 amino acid(s) of the SACS protein.
Genome-Nilou Lab RCV000674844 SCV002027651 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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