ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1032_1034del (p.Leu345del)

dbSNP: rs1555381612
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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 RCV000642526 SCV000764211 uncertain significance Hereditary spastic paraplegia 11 2017-08-06 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant has not been reported in the literature in individuals with SPG11-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.1032_1034delATT, results in the deletion of 1 amino acid of the SPG11 protein (p.Leu345del), but otherwise preserves the integrity of the reading frame.

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