ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.565dup (p.Thr189fs) (rs11570344)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000218370 SCV000329340 likely benign not specified 2017-11-07 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.
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) RCV000736046 SCV000845746 likely pathogenic Hirschsprung disease no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000337490 SCV000434875 likely benign Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392916 SCV000434876 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218370 SCV000270181 benign not specified 2017-07-20 criteria provided, single submitter clinical testing p.Thr189fs in exon 4 of EDN3: This variant is not expected to have clinical sign ificance because it has been identified in 0.6% (157/25790) of Finnish chromosom es including 2 homozygotes, and 0.3% (381/126686) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 11570344). The variant has been reported in an individual with congenital centra l hypoventilation syndrome and an individual with Hirschsprung disease; however, the variant did not segregate with disease in an affected sibling while several unaffected family members harbored this variant. In addition, in vitro function al analysis indicated no effect on protein expression and the authors pointed ou t that the variant occurs in a region near the 3' end that is cleaved off in the active form of the protein (Bolk 1996, Sanchez-Mejias 2009). In summary, this variant is benign based on its frequency and lack of evidence to support pathoge nicity.
OMIM RCV000018125 SCV000038404 pathogenic Congenital central hypoventilation 1996-08-01 no assertion criteria provided literature only

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