ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer) (rs1566058677)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696681 SCV000825254 pathogenic Spastic paraplegia 2017-12-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Leu3645*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 935 amino acids (~20%) of the SACS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related disease. A different truncation downstream of this variant (p.Arg3903*) has been determined to be pathogenic (PMID: 19892370, 21745802). This suggests that deletion of this region of the SACS protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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