ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys)

gnomAD frequency: 0.00001  dbSNP: rs147467366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819628 SCV002070647 uncertain significance not specified 2019-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869705 SCV002310416 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2021-05-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs147467366, ExAC 0.001%). This sequence change replaces serine with cysteine at codon 46 of the CXCR4 protein (p.Ser46Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant has not been reported in the literature in individuals with CXCR4-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.
Mayo Clinic Laboratories, Mayo Clinic RCV002261389 SCV002541858 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing

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