ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)

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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 RCV002367211 SCV002666747 likely pathogenic Maturity onset diabetes mellitus in young 2017-08-23 criteria provided, single submitter clinical testing The c.671_672dupAG variant, located in coding exon 2 of the PDX1 gene, results from a duplication of AG at nucleotide position 671, causing a translational frameshift with a predicted alternate stop codon (p.Q225Sfs*6). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of PDX1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 64 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time; however, this frameshift impacts a signalling motif indicated to be needed for regulation of the degradation and translocation of PDX1 (Zhou G et al. Curr. Mol. Med., 2013 Mar;13:377-86). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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