ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)

dbSNP: rs730880320
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000015065 SCV001237270 likely pathogenic Warts, hypogammaglobulinemia, infections, and myelokathexis 2019-03-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect CXCR4 protein function (PMID: 16899028). This variant has been observed in several individuals with clinical features of WHIM syndrome (PMID: 12692554, 16899028, Invitae). ClinVar contains an entry for this variant (Variation ID: 14021). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the CXCR4 gene (p.Ser339Cysfs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acids of the CXCR4 protein.
OMIM RCV001801238 SCV000035321 pathogenic WHIM syndrome 1 2003-05-01 no assertion criteria provided literature only

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