ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1620del (p.Val541fs)

dbSNP: rs2542394791
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003590534 SCV004266240 pathogenic Spastic paraplegia 2023-06-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SACS-related conditions. This sequence change creates a premature translational stop signal (p.Val541Serfs*9) in the SACS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SACS are known to be pathogenic (PMID: 18465152, 20876471). This variant is not present in population databases (gnomAD no frequency).

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