Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156887 | SCV000206608 | pathogenic | Rare genetic deafness | 2014-11-12 | criteria provided, single submitter | clinical testing | The p.Gly3814X variant in USH2A has not been previously reported in individuals with hearing loss and was absent from large population studies. This nonsense va riant leads to a premature termination codon at position 3814, which is predicte d to lead to a truncated or absent protein. In summary, this variant meets our c riteria to be classified as pathogenic for Usher syndrome in an autosomal recess ive manner (www.partners.org/personalizedmedicine/lmm). |
Labcorp Genetics |
RCV002515040 | SCV003345833 | pathogenic | not provided | 2022-04-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly3814*) 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 premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 180084). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV003453204 | SCV004182101 | pathogenic | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Department of Clinical Genetics, |
RCV000787718 | SCV000926713 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |