ClinVar Miner

Submissions for variant NM_013447.4(ADGRE2):c.1849A>T (p.Met617Leu)

gnomAD frequency: 0.00001  dbSNP: rs781288814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248166 SCV002519285 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002248166 SCV005569185 uncertain significance not specified 2024-11-14 criteria provided, single submitter clinical testing The c.1849A>T (p.M617L) alteration is located in exon 16 (coding exon 15) of the ADGRE2 gene. This alteration results from a A to T substitution at nucleotide position 1849, causing the methionine (M) at amino acid position 617 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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