ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)

gnomAD frequency: 0.00001  dbSNP: rs766478634
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987783 SCV001137236 likely pathogenic Intellectual disability, autosomal recessive 18 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001779096 SCV002016302 likely pathogenic Neurodevelopmental disorder 2021-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380799 SCV004090131 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.4000C>T (p.R1334C) alteration is located in exon 30 (coding exon 30) of the MED23 gene. This alteration results from a C to T substitution at nucleotide position 4000, causing the arginine (R) at amino acid position 1334 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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