ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.208G>A (p.Val70Met)

gnomAD frequency: 0.00001  dbSNP: rs1234749777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174444 SCV001337583 uncertain significance Monogenic diabetes 2018-03-16 criteria provided, single submitter research ACMG criteria: PP3 (7 predictors), BP4 (2 predictors), PM2 (absent db), NOTE: is in transactivation domain but there is some likely benign variation within this domain also=VUS
New York Genome Center RCV003227922 SCV003925365 uncertain significance Maturity-onset diabetes of the young type 4; Pancreatic agenesis 1; Type 2 diabetes mellitus 2022-04-06 criteria provided, single submitter clinical testing

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