ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.3371A>G (p.Asn1124Ser)

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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 RCV005364736 SCV006030609 uncertain significance Inborn genetic diseases 2025-03-03 criteria provided, single submitter clinical testing The c.3389A>G (p.N1130S) alteration is located in exon 25 (coding exon 25) of the MED23 gene. This alteration results from a A to G substitution at nucleotide position 3389, causing the asparagine (N) at amino acid position 1130 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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