ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.4076A>C (p.Gln1359Pro)

dbSNP: rs765709336
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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 RCV003270747 SCV003955287 uncertain significance Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing The c.4094A>C (p.Q1365P) alteration is located in exon 30 (coding exon 30) of the MED23 gene. This alteration results from a A to C substitution at nucleotide position 4094, causing the glutamine (Q) at amino acid position 1365 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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