Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556086 | SCV004296062 | pathogenic | not provided | 2023-07-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 31704). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21569298). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro246Hisfs*13) in the WHRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WHRN are known to be pathogenic (PMID: 12833159, 15841483, 22147658). |
OMIM | RCV000024377 | SCV000045670 | pathogenic | Usher syndrome type 2D | 2012-03-01 | no assertion criteria provided | literature only |