ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations RCV000758016 SCV000886501 likely pathogenic Total intestinal aganglionosis; 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.

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