ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)

gnomAD frequency: 0.00001  dbSNP: rs771813705
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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 RCV000792523 SCV000931826 pathogenic Hereditary spastic paraplegia 11 2023-06-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs771813705, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 639667). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (PMID: 20571989, 26064709, 26183056). This sequence change creates a premature translational stop signal (p.Arg1041*) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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