ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1245del (p.Lys414_Tyr415insTer) (rs863224513)

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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 Inc RCV000713462 SCV000844070 pathogenic not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000200188 SCV000253913 pathogenic Spastic paraplegia 4, autosomal dominant 2017-01-24 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 9 of the SPAST mRNA (c.1245delC), causing a frameshift at codon 415. This creates a premature translational stop signal (p.Tyr415*) and is expected to result in an absent or disrupted protein product. Truncating variants in SPAST are known to be pathogenic. This variation has been reported in individuals affected with hereditary spastic paraplegia (PMID: 18701882, 19875132). For these reasons, this variant has been classified as Pathogenic.

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