ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6540del (p.His2180fs)

dbSNP: rs2140920898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985280 SCV002223058 pathogenic Hereditary spastic paraplegia 11 2021-07-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This sequence change creates a premature translational stop signal (p.His2180Glnfs*9) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829).

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