ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)

dbSNP: rs1057517285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412381 SCV000487045 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV002523873 SCV003442052 pathogenic Spastic paraplegia 2023-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg742*) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3838 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with spastic ataxia of Charlevoix-Saguenay (PMID: 20368637, 23280630). This variant is also known as p.R472X. ClinVar contains an entry for this variant (Variation ID: 371456). 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. For these reasons, this variant has been classified as Pathogenic.

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