ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.167dup (p.Leu57fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474437 SCV002771059 pathogenic not provided 2022-02-28 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual tested at Athena Diagnostics with clinical features associated with this gene.
Labcorp Genetics (formerly Invitae), Labcorp RCV003633671 SCV004436137 pathogenic Hereditary spastic paraplegia 4 2023-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu57Alafs*79) 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 variant has not been reported in the literature in individuals affected with SPAST-related conditions. ClinVar contains an entry for this variant (Variation ID: 1807008). For these reasons, this variant has been classified as Pathogenic.

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