ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) (rs312262723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034170 SCV000253952 pathogenic Spastic paraplegia 11, autosomal recessive 2020-03-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser412*) 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 in several families with autosomal recessive hereditary spastic paraplegia in several families (PMID: 18079167, 27071356, 18663179). ClinVar contains an entry for this variant (Variation ID: 41269). 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.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000034170 SCV000778411 likely pathogenic Spastic paraplegia 11, autosomal recessive 2017-02-03 criteria provided, single submitter clinical testing
Paris Brain Institute,Inserm - ICM RCV000034170 SCV001451243 pathogenic Spastic paraplegia 11, autosomal recessive criteria provided, single submitter clinical testing
GeneReviews RCV000034170 SCV000058108 pathologic Spastic paraplegia 11, autosomal recessive 2013-01-31 no assertion criteria provided curation Converted during submission to Pathogenic.

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