ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr)

gnomAD frequency: 0.00001  dbSNP: rs148454403
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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 RCV001061022 SCV001225746 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2023-09-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 341 of the CXCR4 protein (p.Ser341Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 855700). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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