ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.302C>A (p.Ser101Ter)

dbSNP: rs746263735
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233082 SCV001405662 pathogenic Hereditary spastic paraplegia 4 2022-09-27 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: 959690). This variant has not been reported in the literature in individuals affected with SPAST-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser101*) 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291596 SCV001480144 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001233082 SCV002579809 likely pathogenic Hereditary spastic paraplegia 4 2022-03-24 criteria provided, single submitter clinical testing

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