ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu)

gnomAD frequency: 0.00001  dbSNP: rs762937679
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798772 SCV000938403 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2024-05-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 243 of the CXCR4 protein (p.Ile243Leu). This variant is present in population databases (rs762937679, gnomAD 0.007%). 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: 644782). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Baylor Genetics RCV003147549 SCV003836254 uncertain significance WHIM syndrome 1 2022-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003396391 SCV004119568 uncertain significance CXCR4-related disorder 2024-02-23 no assertion criteria provided clinical testing The CXCR4 c.727A>C variant is predicted to result in the amino acid substitution p.Ile243Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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