ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1707G>A (p.Trp569Ter) (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 2018-08-07 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with an unspecified with autism spectrum disorder (PMID: 28330790). Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). For these reasons, this variant has been classified as Pathogenic.

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