ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.1180G>C (p.Glu394Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004981356 SCV005567820 uncertain significance Inborn genetic diseases 2024-11-15 criteria provided, single submitter clinical testing The c.1180G>C (p.E394Q) alteration is located in exon 17 (coding exon 15) of the ADGRG2 gene. This alteration results from a G to C substitution at nucleotide position 1180, causing the glutamic acid (E) at amino acid position 394 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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