ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5175del (p.Ala1726fs) (rs1060499768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454217 SCV000537979 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000686221 SCV000813730 pathogenic Spastic paraplegia 11, autosomal recessive 2018-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1726Glnfs*112) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with spastic paraplegia in a family (PMID: 26539891). ClinVar contains an entry for this variant (Variation ID: 402197). Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). For these reasons, this variant has been classified as Pathogenic.

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