ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1004+1G>C

dbSNP: rs1553315236
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213274 SCV001384900 pathogenic Hereditary spastic paraplegia 4 2019-09-28 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this disruption of this splice site alters mRNA splicing (PMID: 25421405). Disruption of this splice site has been observed in individuals affected with hereditary spastic paraplegia (PMID: 27334366, 25421405). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 6 of the SPAST gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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