ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln)

gnomAD frequency: 0.00001  dbSNP: rs985433681
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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 RCV001969694 SCV002266315 uncertain significance Hereditary spastic paraplegia 31 2022-10-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1474093). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with REEP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 113 of the REEP1 protein (p.Arg113Gln).

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