ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.653G>C (p.Cys218Ser)

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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 RCV003629793 SCV004537499 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2022-11-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CXCR4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 218 of the CXCR4 protein (p.Cys218Ser).

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