ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.2485A>G (p.Ile829Val)

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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 RCV005322751 SCV005988297 uncertain significance Inborn genetic diseases 2025-01-20 criteria provided, single submitter clinical testing The c.2485A>G (p.I829V) alteration is located in exon 26 (coding exon 24) of the ADGRG2 gene. This alteration results from a A to G substitution at nucleotide position 2485, causing the isoleucine (I) at amino acid position 829 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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