ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)

gnomAD frequency: 0.00001  dbSNP: rs201617124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246839 SCV002516660 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003094043 SCV003508209 uncertain significance not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 83 of the ADGRE2 protein (p.Ser83Leu). This variant is present in population databases (rs201617124, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADGRE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1686326). 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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