ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11373dup (p.Arg3792fs)

dbSNP: rs1555249904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673091 SCV000798259 likely pathogenic Charlevoix-Saguenay spastic ataxia 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531332 SCV003299006 pathogenic Spastic paraplegia 2022-08-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SACS-related conditions. 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.Asn4549Asp) have been determined to be pathogenic (PMID: 15156359, 21507954). 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: 557008). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg3792Alafs*18) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 788 amino acid(s) of the SACS protein.
Baylor Genetics RCV000673091 SCV004209919 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-09-04 criteria provided, single submitter clinical testing

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