ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)

dbSNP: rs1553400013
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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 RCV001391487 SCV001450931 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391487 SCV004292417 pathogenic Hereditary spastic paraplegia 4 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln193*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 989092). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 10699187). This variant is not present in population databases (gnomAD no frequency).

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