ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.881C>T (p.Ser294Phe)

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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 RCV004979384 SCV005567767 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.881C>T (p.S294F) alteration is located in exon 16 (coding exon 14) of the ADGRG2 gene. This alteration results from a C to T substitution at nucleotide position 881, causing the serine (S) at amino acid position 294 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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