ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1189dup (p.Ser397fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466364 SCV004210008 pathogenic Charlevoix-Saguenay spastic ataxia 2023-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588927 SCV004295466 pathogenic Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser397Lysfs*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). This premature translational stop signal has been observed in individual(s) with spastic ataxia of Charlevoix-Saguenay (PMID: 23250129). For these reasons, this variant has been classified as Pathogenic.

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