ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)

gnomAD frequency: 0.00006  dbSNP: rs374432034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247826 SCV002517068 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003093975 SCV003293768 uncertain significance not provided 2023-07-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs374432034, gnomAD 0.02%). 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1684734). This variant has not been reported in the literature in individuals affected with ADGRE2-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 725 of the ADGRE2 protein (p.Arg725Gln).

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