ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)

dbSNP: rs747459594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249141 SCV002517379 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774709 SCV004648440 uncertain significance not provided 2022-12-09 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. ClinVar contains an entry for this variant (Variation ID: 1685414). This variant has not been reported in the literature in individuals affected with ADGRE2-related conditions. This variant is present in population databases (rs747459594, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu544*) 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.

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