ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg)

dbSNP: rs201564869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002263211 SCV002544057 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003600426 SCV004508877 uncertain significance Hereditary spastic paraplegia 31 2023-07-19 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1694961). This variant has not been reported in the literature in individuals affected with REEP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 179 of the REEP1 protein (p.Ser179Arg).

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