ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del)

dbSNP: rs527363502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047862 SCV001211844 uncertain significance Hereditary spastic paraplegia 7 2021-09-17 criteria provided, single submitter clinical testing This variant, c.238_240del, results in the deletion of 1 amino acid(s) of the SPG7 protein (p.Leu80del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs527363502, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. 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.
GeneDx RCV001569278 SCV001793322 uncertain significance not provided 2019-11-05 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001047862 SCV002816652 uncertain significance Hereditary spastic paraplegia 7 2021-12-03 criteria provided, single submitter clinical testing

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