ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5744_5745del (p.His1915fs)

dbSNP: rs1057517138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411869 SCV000486804 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-08-09 criteria provided, single submitter clinical testing
Invitae RCV001387964 SCV001588744 pathogenic Spastic paraplegia 2022-02-03 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.Tyr4428*) 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: 371265). This premature translational stop signal has been observed in individual(s) with SACS-related conditions (PMID: 30638817). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1915Argfs*19) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2665 amino acid(s) of the SACS protein.
Genome-Nilou Lab RCV000411869 SCV002027648 likely pathogenic Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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