ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs)

dbSNP: rs2104915518
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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 RCV001987089 SCV002281860 pathogenic Warts, hypogammaglobulinemia, infections, and myelokathexis 2023-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is located in a region of the CXCR4 protein where a significant number of CXCR4 nonsense and frameshift mutations have been reported in association with autosomal dominant WHIM syndrome (PMID: 31313072, 32784523, 35947323, 36089616). Experimental studies have shown that this premature translational stop signal affects CXCR4 function (external communication). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 1494228). This premature translational stop signal has been observed in individual(s) with warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr342Argfs*3) in the CXCR4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the CXCR4 protein.

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