ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu)

gnomAD frequency: 0.00001  dbSNP: rs779760942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819385 SCV002067556 uncertain significance not specified 2018-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003514530 SCV004313325 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2022-12-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 1336899). This variant has not been reported in the literature in individuals affected with CXCR4-related conditions. This variant is present in population databases (rs779760942, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 249 of the CXCR4 protein (p.Phe249Leu).

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