ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3892+7C>T

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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 RCV002645653 SCV002963552 uncertain significance Hereditary spastic paraplegia 11 2022-06-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is present in population databases (rs750799739, gnomAD 0.003%). This sequence change falls in intron 22 of the SPG11 gene. It does not directly change the encoded amino acid sequence of the SPG11 protein.

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