ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.618+14_618+36del

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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 RCV003071741 SCV003457241 uncertain significance Hereditary spastic paraplegia 7 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the SPG7 gene. It does not directly change the encoded amino acid sequence of the SPG7 protein. This variant is present in population databases (rs764377555, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 2149940). 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.

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