ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter) (rs1566055368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707311 SCV000836401 likely pathogenic Spastic paraplegia 2018-04-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Leu4303*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 276 amino acids 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. Other truncations (p.Glu4309*, p.Arg4325*, and p.Phe4352Leufs*11) that lie downstream of this variant have been reported in individuals affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (PMID: 23497566, 26288984, 16944349). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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