ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) (rs1566304640)

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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 RCV000758015 SCV000882831 likely pathogenic Total intestinal aganglionosis; Hearing impairment 2019-02-13 criteria provided, single submitter research The c.1283C>T(p.P248L) variant was observed in a female 4 years old patient diagnosed with total colonic and ileum aganglionosis. The p.P248L variant is located in trans-position with known mutation p.V275M in the same gene. Multiple computational resources predict deleterious effect of p.P248L variant and intolerance of missense variants of EDNRB gene. Also it is absent from large population databases. Based on this evidence, we consider it to classify the p.P248L variant as likely pathogenic.

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