ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.580del (p.Leu194fs)

dbSNP: rs2148710617
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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 RCV002014795 SCV002227582 pathogenic Hereditary spastic paraplegia 4 2024-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu194Phefs*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 premature translational stop signal has been observed in individual(s) with clinical features of hereditary spastic paraplegia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1450559). For these reasons, this variant has been classified as Pathogenic.

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