ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1324+7G>A

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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 RCV003618354 SCV004404744 uncertain significance Hereditary spastic paraplegia 7 2022-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the SPG7 gene. It does not directly change the encoded amino acid sequence of the SPG7 protein. 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 SPG7-related conditions. This variant is not present in population databases (gnomAD no frequency).

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