ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.187A>T (p.Lys63Ter)

dbSNP: rs1593157923
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808384 SCV000948492 pathogenic Spastic paraplegia 2018-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys63*) in the SACS gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant has not been reported in the literature in individuals with SACS-related conditions. This variant is not present in population databases (ExAC no frequency).

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