ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466381 SCV004210037 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779105 SCV004622617 pathogenic Spastic paraplegia 2022-11-30 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.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. 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.Gln1044*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3536 amino acid(s) of the SACS protein.

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