ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724384 SCV000224226 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314789 SCV000402434 benign Renal cysts and diabetes syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000173137 SCV000539309 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is classified in HGMD as DM, related to HNF1B-related disease (reported in one patient, phenotype not specified). This variant is classified in ClinVar with 1 star as VUS by Emory. It is present in ExAC with a Max MAF of 0.12%.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000314789 SCV000926171 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174365 SCV001337503 uncertain significance Monogenic diabetes 2019-01-11 criteria provided, single submitter research ACMG criteria: PP3 (REVEL 0.890 + 7 predictors); PP4 (19639018, 26899772; variant also identified in patient in PMID: 24897035 (no clinical info, can't tell if overlap with other papers); BS2 (12 cases and 15 controls in T2Dgenes); BS1 (MAF in gnomAD EurNF population is 0.09%; 0.14% in ESP European pop)= scores as benign, but going to call as VUS given case reports and predictors (conflicting evidence).
Athena Diagnostics RCV000173137 SCV001475669 benign not specified 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000724384 SCV001824843 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing Reported in unrelated patients in published literature, including one individual with hyperuricemia, bilateral renal cysts and dysplasia, and stage 1 chronic kidney disease (Okorn et al., 2019) and an individual whose clinical information was not provided (Yu et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19639018, 26899772, 24897035, 27634015, 31264968, 30666461, 34426522, 32041611)
Invitae RCV000724384 SCV002431991 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444693 SCV002732084 likely benign Maturity onset diabetes mellitus in young 2018-12-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Revvity Omics, Revvity RCV000724384 SCV003808684 uncertain significance not provided 2022-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724384 SCV004144497 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing HNF1B: BS1:Supporting, BS2
PreventionGenetics, part of Exact Sciences RCV003937545 SCV004747536 uncertain significance HNF1B-related disorder 2024-02-16 criteria provided, single submitter clinical testing The HNF1B c.244G>A variant is predicted to result in the amino acid substitution p.Asp82Asn. This variant has been reported in patients with HNF1B-related disease but its pathogenicity was not conclusive (Faguer et al. 2014. PubMed ID: 24897035; Brahm et al. 2016. PubMed ID: 27634015; Yu et al. 2019. PubMed ID: 31264968, supplementary table 6; Okorn et al. 2019. PubMed ID: 30666461; Kanda et al. 2016. PubMed ID: 26899772; Zuber et al. 2009. PubMed ID: 19639018). This variant is reported in 0.11% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724384 SCV001798926 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center RCV001844814 SCV001877065 uncertain significance Autosomal dominant polycystic liver disease 2021-09-01 no assertion criteria provided research
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724384 SCV001926999 likely benign not provided no assertion criteria provided clinical testing

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