ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)

dbSNP: rs864622268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204013 SCV000259911 pathogenic Hereditary spastic paraplegia 4 2015-08-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in SPAST are known to be pathogenic. This particular truncation has been reported in a patient with hereditary spastic paraplegia (PMID: 12124993). This sequence change deletes two nucleotides from exon 12 of the SPAST mRNA (c.1437_1438delAG), causing a frameshift at codon 479. This creates a premature translational stop signal (p.Arg479Serfs*8) and is expected to result in an absent or disrupted protein product.
Institute of Human Genetics, University of Leipzig Medical Center RCV000204013 SCV001428534 likely pathogenic Hereditary spastic paraplegia 4 2018-05-28 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV000204013 SCV001450988 pathogenic Hereditary spastic paraplegia 4 criteria provided, single submitter clinical testing

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