ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences RCV003329144 SCV004031465 uncertain significance Maturity-onset diabetes of the young type 4 2023-08-15 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 1 of the PDX1 gene (chr13:g.27920501G>T) that results in the amino acid substitution of Cysteine for Tryptophan at codon 121. The variant was found to be damaging by MutationTaster 2 and SIFT, and probably damaging by PolyPhen 2. The variant has not been reported in the 1000 genomes and gnomAD. The reference codon is conserved across species. PM2 PP3.

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