ClinVar Miner

Submissions for variant NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) (rs786204126)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000579036 SCV000844072 pathogenic not provided 2016-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000579036 SCV000680743 pathogenic not provided 2017-08-16 criteria provided, single submitter clinical testing The R431X nonsense variant in the SPAST gene has been reported previously in association with in a patient with late onset hereditary spastic paraplegia (Lu et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of R431X is consistent with a diagnosis of spastic paraplegia type 4.
Invitae RCV000168087 SCV000218741 pathogenic Spastic paraplegia 4, autosomal dominant 2016-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 431 (p.Arg431*) of the SPAST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic. This particular variant has been reported in the literature (PMID: 10699187, 18701882, 20718791). For these reasons, this variant has been classified as Pathogenic.

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