ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.16-14T>A

gnomAD frequency: 0.00008  dbSNP: rs1053292586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493844 SCV000582043 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27005825)
Labcorp Genetics (formerly Invitae), Labcorp RCV002527076 SCV003524953 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2024-06-13 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the CXCR4 gene. It does not directly change the encoded amino acid sequence of the CXCR4 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CXCR4-related conditions. ClinVar contains an entry for this variant (Variation ID: 429465). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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