Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601958 | SCV000711228 | uncertain significance | not specified | 2016-06-30 | criteria provided, single submitter | clinical testing | The p.Gly877Glu variant in USH1C has been reported in 1 individual with retiniti s pigmentosa who also had a second variant in USH1C (O'Sullivan 2012). This var iant has been identified in 7/16512 of South Asian chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs371856107); ho wever, its frequency is not high enough to rule out a pathogenic role. Computati onal prediction tools and conservation analyses do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Gly877Glu variant is uncertain. |
Invitae | RCV001474632 | SCV001678804 | likely benign | not provided | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001474632 | SCV002038993 | uncertain significance | not provided | 2021-11-29 | criteria provided, single submitter | clinical testing | Identified with a second USH1C variant in a patient with retinitis pigmentosa in published literature (O'Sullivan et al., 2012), however, additional clinical information was not provided; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22581970) |