ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)

dbSNP: rs2137602382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972740 SCV002245640 pathogenic Spastic paraplegia 2021-11-06 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.Tyr4538*) 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. 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.Glu2418*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2162 amino acid(s) of the SACS protein.
Baylor Genetics RCV003475241 SCV004202319 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-12-21 criteria provided, single submitter clinical testing

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