ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3110dup (p.Leu1037fs)

dbSNP: rs2141011028
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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 RCV001993295 SCV002229778 pathogenic Hereditary spastic paraplegia 11 2021-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with SPG11-related conditions. This sequence change creates a premature translational stop signal (p.Leu1037Phefs*10) 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). This variant is not present in population databases (ExAC no frequency).

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