ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4252del (p.Met1418fs)

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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 RCV003601296 SCV004538934 pathogenic Hereditary spastic paraplegia 11 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1418Trpfs*21) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with spastic ataxia (PMID: 29482223). For these reasons, this variant has been classified as Pathogenic.

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