ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7903del (p.Cys2635fs)

dbSNP: rs1028098148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668512 SCV000793130 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV002532073 SCV003304010 pathogenic Spastic paraplegia 2023-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys2635Alafs*104) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1945 amino acid(s) of the SACS protein. This variant is present in population databases (no rsID available, 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: 553130). 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.
Baylor Genetics RCV000668512 SCV004209882 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-10-25 criteria provided, single submitter clinical testing

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