ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)

dbSNP: rs1555252349
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670492 SCV000795349 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389177 SCV001590445 pathogenic Spastic paraplegia 2023-08-30 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.Leu4303*, p.Tyr4428*) have been determined to be pathogenic (Invitae). 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: 554798). 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.Leu1522Cysfs*14) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3058 amino acid(s) of the SACS protein.
Genome-Nilou Lab RCV000670492 SCV002027659 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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