Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
King Laboratory, |
RCV000454318 | SCV001976378 | likely pathogenic | Usher syndrome type 2C | 2020-08-01 | criteria provided, single submitter | research | Analysis of patient-derived RNA indicates that ADGRV1 c.2898+1G>A disrupts the donor splice site of exon 15, leading to transcriptional loss of exons 14-15 and of protein residues 852-966 in the calcium-binding domain of ADGRV1 (Abu Rayyan 2020). The variant is homozygous in 4 children with moderate to severe hearing loss from 2 Palestinian families. The variant is absent from 1300 Palestinian controls and absent from public databases. |
Hereditary Research Laboratory, |
RCV000454318 | SCV000538093 | pathogenic | Usher syndrome type 2C | 2016-06-04 | no assertion criteria provided | research | congenital, moderate to severe |