ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)

dbSNP: rs1555249276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673080 SCV000798248 likely pathogenic Charlevoix-Saguenay spastic ataxia 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV003750816 SCV004436451 pathogenic Spastic paraplegia 2023-04-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4426*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 154 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). 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: 556998). This variant has not been reported in the literature in individuals affected with SACS-related conditions.

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