ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.959_960del (p.Val320fs)

dbSNP: rs2104915680
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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 RCV001378387 SCV001575940 pathogenic Warts, hypogammaglobulinemia, infections, and myelokathexis 2024-03-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val320Glufs*23) in the CXCR4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CXCR4 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal dominant warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (WHIMS) (Invitae). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects CXCR4 function (Zmajkovicova. 2021. Blood. 138.). For these reasons, this variant has been classified as Pathogenic.

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