ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)

dbSNP: rs1057517002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411733 SCV000486572 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861386 SCV002231491 pathogenic Spastic paraplegia 2023-05-26 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. ClinVar contains an entry for this variant (Variation ID: 371095). 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.Gln3602*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 978 amino acid(s) of the SACS protein.
Baylor Genetics RCV000411733 SCV004209991 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-04-24 criteria provided, single submitter clinical testing

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