ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)

dbSNP: rs1593121484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988964 SCV001138916 pathogenic Charlevoix-Saguenay spastic ataxia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858698 SCV002238225 pathogenic Spastic paraplegia 2021-08-29 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.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: 802912). This variant has not been reported in the literature in individuals affected with SACS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3981*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 599 amino acid(s) of the SACS protein.

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