ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.820G>T (p.Val274Phe)

gnomAD frequency: 0.00003  dbSNP: rs930365498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712003 SCV000616819 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The V274F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 15/16078 (0.09%) alleles from individuals of Latino background in large population cohorts (Lek et al., 2016). V274F is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics RCV000712003 SCV000842416 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821454 SCV002070606 uncertain significance not specified 2019-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490898 SCV002797002 uncertain significance Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 2022-01-04 criteria provided, single submitter clinical testing

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