ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731270 SCV000859066 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV001125735 SCV000926034 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
CeGaT Center for Human Genetics Tuebingen RCV000731270 SCV001151275 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001125735 SCV001284837 benign Renal cysts and diabetes syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000731270 SCV002384096 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422628 SCV002721829 uncertain significance Maturity onset diabetes mellitus in young 2017-01-09 criteria provided, single submitter clinical testing The p.H336D variant (also known as c.1006C>G), located in coding exon 4 of the HNF1B gene, results from a C to G substitution at nucleotide position 1006. The histidine at codon 336 is replaced by aspartic acid, an amino acid with similar properties. This alteration was first described in two unrelated patients with renal hypodysplasia (RHD) associated with chronic renal insufficiency; the father and brother of one were each heterozygous for the alteration but had normal renal evaluations, including ultrasound and biochemical measurements (Weber S et al. J. Am. Soc. Nephrol., 2006 Oct;17:2864-70). In a MODY family, which included a proband with renal and urogenital anomalies, this alteration was identified in three of four individual's with a history of diabetes; however, an HNF1A alteration at a canonical splice site was present in all four diabetic family members (Karges B et al. Diabetes Care, 2007 Jun;30:1613-4). This alteration has been reported in an additional four individuals with congenital anomalies of the kidney and urinary tract (CAKUT); however, given the presence of this alteration in population databases, the authors were not convinced that p.H336D was causative (Hwang DY et al. Kidney Int., 2014 Jun;85:1429-33; Nicolaou N et al. Kidney Int., 2016 Feb;89:476-86). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000731270 SCV004235300 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000731270 SCV000920748 likely benign not provided 2018-09-16 no assertion criteria provided research

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