Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150761 | SCV000198230 | pathogenic | Rare genetic deafness | 2013-08-06 | criteria provided, single submitter | clinical testing | The Tyr1882fs variant in GPR98 has not been reported in individuals with hearing loss or clinical feature of Usher syndrome, and was also not identified in larg e population studies. This frameshift variant is predicted to alter the protein? s amino acid sequence beginning at position 1882 and lead to a premature termina tion codon 6 amino acids downstream. This alteration is then predicted to lead t o a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM). |
Labcorp Genetics |
RCV001068872 | SCV001234005 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 163578). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1882Ilefs*6) in the ADGRV1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRV1 are known to be pathogenic (PMID: 19357117, 22135276, 22147658, 26226137, 30718709, 31047384, 32467589). |