ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5744_5745del (p.His1915fs) (rs1057517138)

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Total submissions: 2
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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 2020-10-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.His1915Argfs*19). 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with SACS-related conditions (PMID: 30638817). ClinVar contains an entry for this variant (Variation ID: 371265). This variant disrupts the C-terminus of the SACS protein. Other variant(s) that disrupt this region (p.Tyr4428*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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