ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)

dbSNP: rs1057516438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410665 SCV000485678 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV002524619 SCV003489558 pathogenic Spastic paraplegia 2022-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2507Aspfs*21) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2073 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). 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: 370374). 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. For these reasons, this variant has been classified as Pathogenic.

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