ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.162G>A (p.Leu54=)

gnomAD frequency: 0.01287  dbSNP: rs28509441
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Total submissions: 8
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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 RCV000030075 SCV000052730 likely benign Maturity-onset diabetes of the young type 4 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000396870 SCV000339703 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000396870 SCV000519044 benign not specified 2016-03-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000396870 SCV000614425 benign not specified 2012-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000882803 SCV001026062 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465493 SCV002605328 likely benign Pancreatic hypoplasia criteria provided, single submitter research Potent homozygous mutations in the PDX1 gene can lead to pancreatic agenesis/pancreatic hypoplasia and neonatal diabetes mellitus. However no sufficient evidence is found to ascertain the role of this particular variant rs28509441, yet.
Ambry Genetics RCV002399341 SCV002707576 benign Maturity onset diabetes mellitus in young 2016-10-11 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 RCV000882803 SCV004564635 benign not provided 2023-04-17 criteria provided, single submitter clinical testing

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