ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.367C>T (p.Arg123Trp)

gnomAD frequency: 0.00006  dbSNP: rs374403178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660483 SCV000782582 uncertain significance Intellectual disability, autosomal recessive 18 2017-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458174 SCV002615877 uncertain significance Inborn genetic diseases 2024-03-26 criteria provided, single submitter clinical testing The c.367C>T (p.R123W) alteration is located in exon 5 (coding exon 5) of the MED23 gene. This alteration results from a C to T substitution at nucleotide position 367, causing the arginine (R) at amino acid position 123 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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