ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1174-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000787278 SCV000960864 pathogenic Spastic paraplegia 4, autosomal dominant 2018-08-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the SPAST gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with hereditary spastic paraplegia (PMID: 21546041, 27942873, 18701882, 20562464). 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.
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust RCV000787278 SCV000926209 likely pathogenic Spastic paraplegia 4, autosomal dominant 2019-05-03 no assertion criteria provided clinical testing

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