Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724384 | SCV000224226 | uncertain significance | not provided | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
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, |
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, |
RCV000314789 | SCV000926171 | uncertain significance | Renal cysts and diabetes syndrome | 2019-07-06 | criteria provided, single submitter | literature only | |
Personalized Diabetes Medicine Program, |
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 | |
Gene |
RCV000724384 | SCV001824843 | uncertain significance | not provided | 2024-02-28 | 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 and an individual whose clinical information was not provided (PMID: 30666461, 31264968); 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, 34426522, 32041611, 30666461, 38025229, 30476936) |
Labcorp Genetics |
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, |
RCV000724384 | SCV003808684 | uncertain significance | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724384 | SCV004144497 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | HNF1B: BS1:Supporting, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV000724384 | SCV001798926 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Gastroenterology and Hepatology, |
RCV001844814 | SCV001877065 | uncertain significance | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Genome Diagnostics Laboratory, |
RCV000724384 | SCV001926999 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003937545 | SCV004747536 | uncertain significance | HNF1B-related disorder | 2024-05-24 | no assertion criteria provided | 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 features of HNF1B-related disorders; however, pathogenicity has not been established (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, which is likely too common to be a primary cause of autosomal dominant disorders. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |