ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His)

dbSNP: rs1386550783
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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 RCV001924803 SCV002155047 uncertain significance Hereditary spastic paraplegia 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 2385 of the SPG11 protein (p.Tyr2385His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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