Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000824790 | SCV000065524 | pathogenic | Rare genetic deafness | 2010-08-19 | criteria provided, single submitter | clinical testing | The Val1147fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. The Val1147fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1147 and leads to a premature stop codon 6 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this varia nt meets our criteria to be classified as pathogenic. |
| Labcorp Genetics |
RCV003669102 | SCV004393905 | pathogenic | not provided | 2023-12-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1147Serfs*6) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48502). For these reasons, this variant has been classified as Pathogenic. |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000041828 | SCV000863932 | pathogenic | Usher syndrome type 2A | 2018-09-03 | no assertion criteria provided | clinical testing |