ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.688G>C (p.Val230Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338903 SCV004047283 uncertain significance Waardenburg syndrome type 4A criteria provided, single submitter clinical testing The missense variant c.688G>C (p.Val230Leu) in EDNRB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Val230Leu variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. The amino acid Val at position 230 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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