ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)

dbSNP: rs771388402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391489 SCV001450933 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391489 SCV005834304 pathogenic Hereditary spastic paraplegia 4 2024-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr269*) 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 hereditary spastic paraplegia (PMID: 10699187, 18664244). ClinVar contains an entry for this variant (Variation ID: 989094). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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