ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.949_950insA (p.Phe317fs)

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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 RCV005207089 SCV005845419 pathogenic Hereditary spastic paraplegia 4 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe317Tyrfs*2) in the SPAST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPAST-related conditions. For these reasons, this variant has been classified as Pathogenic.

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