ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)

dbSNP: rs770490672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850593 SCV000992819 pathogenic Charlevoix-Saguenay spastic ataxia 2017-12-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001386982 SCV001587445 pathogenic Spastic paraplegia 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu2145*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2435 amino acid(s) of the SACS protein. This variant is present in population databases (rs770490672, 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: 689782). 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. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000850593 SCV002027645 pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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