ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.256C>T (p.Leu86Phe)

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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 RCV002296410 SCV002595234 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2022-08-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with CXCR4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 86 of the CXCR4 protein (p.Leu86Phe).
PreventionGenetics, part of Exact Sciences RCV003403784 SCV004120416 uncertain significance CXCR4-related disorder 2022-08-20 criteria provided, single submitter clinical testing The CXCR4 c.256C>T variant is predicted to result in the amino acid substitution p.Leu86Phe. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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