ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3036C>G (p.Tyr1012Ter)

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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 RCV003034495 SCV003326811 pathogenic Hereditary spastic paraplegia 11 2022-03-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 28119845). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1012*) 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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