ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5769dup (p.Met1924fs)

dbSNP: rs1595842556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008881 SCV001168687 pathogenic not provided 2018-06-11 criteria provided, single submitter clinical testing The c.5769dupT variant in the SPG11 gene causes a frameshift starting with codon Methionine 1924,changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 16 ofthe new reading frame, denoted p.Met1924TyrfsX16. This variant is predicted to cause loss of normalprotein function either through protein truncation or nonsense-mediated mRNA decay. Thec.5769dupT variant is not observed in large population cohorts (Lek et al., 2016).
Labcorp Genetics (formerly Invitae), Labcorp RCV001860597 SCV002242055 pathogenic Hereditary spastic paraplegia 11 2021-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1924Tyrfs*16) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 817675). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001860597 SCV002763793 pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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