ClinVar Miner

Submissions for variant NM_005121.3(MED13):c.2524C>T (p.Gln842Ter)

dbSNP: rs2143471373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272624 SCV002556507 pathogenic Intellectual developmental disorder 61 2020-06-01 criteria provided, single submitter clinical testing The MED13 c.2524C>T variant is a single nucleotide change from a cytosine to a thymine at position 2524 which is predicted to substitute the amino acid glutamine at position 842 in the protein for a premature termination codon. The variant is located in exon 14 of 30 and the product is predicted to undergo nonsense mediated decay (PVS1). The variant has not been described in the literature to date. The variant has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in the ClinVar or HGMD disease databases. The variant is de novo in the proband and maternity and paternity have been confirmed using a bioinformatic relatedness check (PS2).

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