ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1173+1G>A (rs1060502226)

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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 RCV000518279 SCV000615381 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000472388 SCV000548908 pathogenic Spastic paraplegia 4, autosomal dominant 2017-05-24 criteria provided, single submitter clinical testing This sequence change affects a donor 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 has been reported in individuals affected with autosomal dominant hereditary spastic paraplegia (PMID: 10699187, 11015453). This variant is also known in the literature as 1298+1G>A and 1299+1G>A. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in SPAST are known to be pathogenic (PMID: 18701882). In addition, this variant has been previously reported in affected individuals. For these reasons, it has been classified as Pathogenic.

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