Total submissions: 3
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). |
Gene |
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 |