ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)

gnomAD frequency: 0.00001  dbSNP: rs754690213
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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 RCV003600551 SCV004376741 uncertain significance Hereditary spastic paraplegia 31 2023-05-27 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 variant has not been reported in the literature in individuals affected with REEP1-related conditions. This variant is present in population databases (rs754690213, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 158 of the REEP1 protein (p.Thr158Ile).

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