ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.759-5G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002972633 SCV003292377 uncertain significance Hereditary spastic paraplegia 7 2022-08-16 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 create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (rs376467458, gnomAD 0.004%). This sequence change falls in intron 5 of the SPG7 gene. It does not directly change the encoded amino acid sequence of the SPG7 protein.
GeneDx RCV004721094 SCV005328029 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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