ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4012G>T (p.Glu1338Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585151 SCV005073855 likely pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing The observed stop gained variant c.4012G>T (p.Glu1338Ter) in SPG11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu1338Ter variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The nucleotide change c.4012G>T in SPG11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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