ClinVar Miner

Submissions for variant NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly)

dbSNP: rs1684840650
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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 RCV001231506 SCV001404032 uncertain significance Warts, hypogammaglobulinemia, infections, and myelokathexis 2019-08-22 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 not been reported in the literature in individuals with CXCR4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 325 of the CXCR4 protein (p.Ser325Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine.
Ambry Genetics RCV004033129 SCV004855318 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.973A>G (p.S325G) alteration is located in exon 2 (coding exon 2) of the CXCR4 gene. This alteration results from a A to G substitution at nucleotide position 973, causing the serine (S) at amino acid position 325 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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