ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) (rs864622507)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206309 SCV000260894 uncertain significance Spastic paraplegia 7 2015-09-29 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 635 of the SPG7 protein (p.Ser635Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant was reported in an individual affected with hereditary spastic paraplegia and not seen in any control individuals (PMID: 16534102). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago RCV000206309 SCV000597236 likely pathogenic Spastic paraplegia 7 2015-10-07 criteria provided, single submitter clinical testing

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