ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)

dbSNP: rs104894390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851902 SCV002241990 pathogenic not provided 2021-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg253*) in the EDNRB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDNRB are known to be pathogenic (PMID: 8001159, 20127975). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Waardenburg syndrome type 4A (PMID: 10528251). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 16639). This variant is not present in population databases (ExAC no frequency).
GeneDx RCV001851902 SCV002504239 likely pathogenic not provided 2021-08-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 16618617, 18348274, 10528251)
OMIM RCV000018119 SCV000038398 pathogenic Waardenburg syndrome type 4A 1999-11-05 no assertion criteria provided literature only

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