ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)

gnomAD frequency: 0.00014  dbSNP: rs771415140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249322 SCV002518622 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003094019 SCV003258176 uncertain significance not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr498Glnfs*6) in the ADGRE2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ADGRE2 cause disease. This variant is present in population databases (rs771415140, gnomAD 0.05%). 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: 1685595). 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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