ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)

dbSNP: rs312262711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000034207 SCV001229310 pathogenic Hereditary spastic paraplegia 11 2021-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). This variant has been observed in an individual affected with complex hereditary spastic paraplegia (PMID: 19196735). ClinVar contains an entry for this variant (Variation ID: 41306). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu117*) in the SPG11 gene. It is expected to result in an absent or disrupted protein product.
GeneReviews RCV000034207 SCV000058145 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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