ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) (rs781214034)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000758016 SCV000886501 likely pathogenic Aganglionosis, total intestinal; Hearing impairment 2019-02-19 criteria provided, single submitter research The c.823G>A (p.V275M) variant was observed in a female 4 years old patient diagnosed with total colonic and ileum aganglionosis. Multiple computational resources predict deleterious effect of p.V275M variant and intolerance of missense variants of EDNRB gene. Also it is absent from large population databases. According to HGMD database, the p.V275M was previously classified as pathogenic (HGMD-CM081580). Based on this evidence, we consider it to classify the p.V275M variant as likely pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV001112191 SCV001269832 uncertain significance Hirschsprung disease 2 2017-04-27 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
University of Washington Center for Mendelian Genomics, University of Washington RCV001291323 SCV001479796 likely pathogenic Deafness, autosomal recessive no assertion criteria provided research

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