ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.977dup (p.Asn326fs)

dbSNP: rs1678810039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035572 SCV001198905 pathogenic Hereditary spastic paraplegia 4 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 834811). This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.977-978insA. This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 20932283). This sequence change creates a premature translational stop signal (p.Asn326Lysfs*6) 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).

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