ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)

gnomAD frequency: 0.00001  dbSNP: rs534741485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248988 SCV002516253 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728051 SCV004534496 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1685261). This variant has not been reported in the literature in individuals affected with ADGRE2-related conditions. This variant is present in population databases (rs534741485, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 602 of the ADGRE2 protein (p.Ile602Thr). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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