ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1361dup (p.His455fs)

dbSNP: rs1573156283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819748 SCV000960426 pathogenic Hereditary spastic paraplegia 4 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His455Alafs*4) 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 individuals with spastic paraplegia (PMID: 11309678; Invitae). This variant is also known as 1486insA. ClinVar contains an entry for this variant (Variation ID: 662160). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849119 SCV002105601 pathogenic Hereditary spastic paraplegia 2020-07-01 criteria provided, single submitter clinical testing

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