ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) (rs11570255)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000018126 SCV000267299 uncertain significance Hirschsprung disease 4 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222596 SCV000269063 benign not specified 2016-10-06 criteria provided, single submitter clinical testing p.Ala17Thr in exon 1 of EDN3: This variant is not expected to have clinical sign ificance because it has been identified in 2.4% (185/7748) of East Asian chromos omes including 4 homozygotes by the Exome Aggregation Consortium (ExAC, http://e; dbSNP rs11570255).
Illumina Clinical Services Laboratory,Illumina RCV000018126 SCV000434864 benign Hirschsprung disease 4 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 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.
GeneDx RCV000222596 SCV000730440 likely benign not specified 2017-10-12 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.
Invitae RCV000950863 SCV001097203 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000950863 SCV001143832 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV000018126 SCV001435180 likely benign Hirschsprung disease 4 criteria provided, single submitter research The heterozygous p.Ala17Thr variant in EDN3 has been identified in an individual with Hirschsprung disease (PMID: 9587491), and has been identified in >2% of East Asian chromosomes and 4 homozygotes by ExAC ( In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for Hirschsprung disease.
OMIM RCV000018126 SCV000038405 risk factor Hirschsprung disease 4 1997-07-01 no assertion criteria provided literature only

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