ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.250G>C (p.Asp84His)

gnomAD frequency: 0.00003  dbSNP: rs368016542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997208 SCV001152410 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001221453 SCV001393500 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2021-04-05 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of CXCR4-related conditions (Invitae). Additionally, this variant has been observed in one or more individuals who were not affected with CXCR4-related conditions (Invitae). This variant is present in population databases (rs368016542, ExAC 0.006%). This sequence change replaces aspartic acid with histidine at codon 84 of the CXCR4 protein (p.Asp84His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine.
Fulgent Genetics, Fulgent Genetics RCV002505515 SCV002816320 uncertain significance WHIM syndrome 1 2021-09-21 criteria provided, single submitter clinical testing

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