ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile)

dbSNP: rs1553461131
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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 RCV000641682 SCV000763329 uncertain significance Hereditary spastic paraplegia 31 2017-09-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 131 of the REEP1 protein (p.Thr131Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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 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 C0"). This variant has not been reported in the literature in individuals with REEP1-related disease. This variant is not present in population databases (ExAC no frequency).

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