ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)

dbSNP: rs1593144544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813900 SCV000954282 pathogenic Spastic paraplegia 2018-07-26 criteria provided, single submitter clinical testing 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 been observed as homozygous in an individual affected with an unspecified with autism spectrum disorder (PMID: 28330790). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp569*) in the SACS gene. It is expected to result in an absent or disrupted protein product.

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