ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1493+1G>A

dbSNP: rs1553318351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219396 SCV001391332 pathogenic Hereditary spastic paraplegia 4 2019-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20491894). This variant has been observed to segregate with hereditary spastic paraplegia in a family (PMID: 20491894). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 12 of the SPAST gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Athena Diagnostics Inc RCV001664760 SCV001880487 pathogenic not provided 2021-03-23 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. 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 with clinical features associated with this gene.

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