ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)

dbSNP: rs193922357
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030082 SCV000052737 benign Maturity-onset diabetes of the young type 4 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030084 SCV000052739 uncertain Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000261035 SCV000332347 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445549 SCV000537093 benign Monogenic diabetes 2018-12-07 criteria provided, single submitter research ACMG criteria: BP4 (CADD and indel predictor PROVEAN calls neutral, DDIG-indel 90% probability that it is neurtal), BA1 (7.5% in African and 38 homo in gnomAD), PM4 (nonframeshift protein length changing), PS3 (decrease in insulin promoter activity, PMID: 10545531), PP1mod (2 familes with 5 individuals each segregating, PMID: 10545531- 1999 paper, only looked at PDX1 variant)--> conflicting data BUT 7.5% in African --> BA1= benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000959390 SCV001106293 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000030082 SCV001138926 benign Maturity-onset diabetes of the young type 4 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000261035 SCV001476621 benign not specified 2019-10-10 criteria provided, single submitter clinical testing
GeneDx RCV000959390 SCV001916107 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16229747, 17003361, 14764823, 10545531, 27634015)
Ambry Genetics RCV002381270 SCV002672498 benign Maturity onset diabetes mellitus in young 2017-09-18 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000959390 SCV004563019 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
OMIM RCV002279932 SCV000029629 risk factor Diabetes mellitus type 2, susceptibility to 1999-11-01 no assertion criteria provided literature only

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