ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) (rs1156566314)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549870 SCV000629450 pathogenic Spastic paraplegia 2017-02-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the SACS mRNA at codon 3647 (p.Glu3647*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 933 amino acids (~20%) of the SACS protein. While this variant has not been reported in the literature, 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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