ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)

gnomAD frequency: 0.00003  dbSNP: rs755207439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501927 SCV000595763 uncertain significance not specified 2016-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376924 SCV002625187 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.3981A>T (p.L1327F) alteration is located in exon 30 (coding exon 30) of the MED23 gene. This alteration results from a A to T substitution at nucleotide position 3981, causing the leucine (L) at amino acid position 1327 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002490837 SCV002779292 uncertain significance Intellectual disability, autosomal recessive 18 2022-04-12 criteria provided, single submitter clinical testing

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