ClinVar Miner

Submissions for variant NM_175914.4(HNF4A):c.224+17dup (rs371937621)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000387464 SCV000433888 uncertain significance Hyperinsulinism, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295478 SCV000433889 uncertain significance Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000838670 SCV000980548 likely benign not provided 2018-03-16 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 Inc RCV000838670 SCV001144205 benign not provided 2018-09-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264430 SCV001442571 benign not specified 2020-10-23 criteria provided, single submitter clinical testing Variant summary: HNF4A c.224+17dupT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. The variant allele was found at a frequency of 0.0019 in 245602 control chromosomes in the gnomAD database, including 2 homozygotes. The observed variant frequency is approximately 603.25 fold of the estimated maximal expected allele frequency for a pathogenic variant in HNF4A causing Maturity Onset Diabetes Of The Young 1/Neonatal Diabetes Mellitus phenotype (3.1e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.224+17dupT in individuals affected with Maturity Onset Diabetes Of The Young 1/Neonatal Diabetes Mellitus and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Based on the evidence outlined above, the variant was classified as benign.

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