ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)

gnomAD frequency: 0.01109  dbSNP: rs5352
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222856 SCV000269066 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser395Asn in exon 5 of EDNRB: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (119/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs5352).
PreventionGenetics, part of Exact Sciences RCV000222856 SCV000302327 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000018118 SCV000384810 uncertain significance Hirschsprung disease, susceptibility to, 2 2018-03-06 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory of Human Genetics, Universidade de São Paulo RCV000626404 SCV000678739 likely benign Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000222856 SCV000707740 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000954472 SCV000727101 benign not provided 2019-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 26764160, 27535533, 10874640, 8852659, 21507037)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659497 SCV000781315 likely benign Waardenburg syndrome type 4A 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000954472 SCV001101107 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000954472 SCV001143835 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258252 SCV001435166 benign Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant criteria provided, single submitter research The heterozygous p.Ser305Asn variant, sometimes called p.Ser205Asn or p.Ser295Asn, in EDNRB has been identified in at least 6 individuals with Hirschsprung disease, including 4 relatives from 1 family (PMID: 8852659, 10874640, 22995991). However, this variant does not segregate with disease (PMID: 10874640), and has been identified in >2% of European (Finnish) chromosomes and 5 homozygotes in ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for Hirschsprung disease.
CeGaT Center for Human Genetics Tuebingen RCV000954472 SCV004133216 benign not provided 2024-04-01 criteria provided, single submitter clinical testing EDNRB: BS1, BS2
OMIM RCV000018118 SCV000038397 risk factor Hirschsprung disease, susceptibility to, 2 1999-04-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.