ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln)

gnomAD frequency: 0.00001  dbSNP: rs896564103
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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 RCV002006279 SCV002273233 uncertain significance Hereditary spastic paraplegia 31 2023-07-25 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 149 of the REEP1 protein (p.Arg149Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with REEP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1487192).

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