ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.421A>G (p.Ile141Val)

dbSNP: rs2482866158
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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 RCV002328017 SCV002629516 uncertain significance Inborn genetic diseases 2018-11-08 criteria provided, single submitter clinical testing The p.I141V variant (also known as c.421A>G), located in coding exon 6 of the MED23 gene, results from an A to G substitution at nucleotide position 421. The isoleucine at codon 141 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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