ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.899_900insTT (p.Lys300fs)

dbSNP: rs1678803263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229187 SCV001401625 pathogenic Hereditary spastic paraplegia 4 2019-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys300Asnfs*16) in the SPAST gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPAST-related conditions. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic.

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