Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000190638 | SCV000245681 | pathogenic | Usher syndrome type 2A | 2014-11-21 | criteria provided, single submitter | clinical testing | The p.Gln1469X variant in USH2A has been reported in 1 compound heterozygous individual with Usher syndrome type II (Pennings 2004) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1469, which is predicted to lead to a truncated or absent protein. Complete loss-of-function of the USH2A gene is an established disease mechanism in individuals with Usher syndrome type II. In summary, the p.Gln1469X variant in USH2A meets our criteria to be classified as pathogenic for Usher syndrome type II in an autosomal recessive manner. |
Invitae | RCV001852532 | SCV002245651 | pathogenic | not provided | 2020-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1469*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Usher syndrome (PMID: 15241801, 27318125). This variant is also known as p.Gln1468X in the literature. ClinVar contains an entry for this variant (Variation ID: 208625). This variant is not present in population databases (ExAC no frequency). |
Genome- |
RCV000190638 | SCV004182241 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |