Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671747 | SCV000796761 | uncertain significance | Usher syndrome type 1F | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000671747 | SCV000807814 | likely pathogenic | Usher syndrome type 1F | 2018-03-10 | criteria provided, single submitter | clinical testing | This variant results in an amino acid alteration replacing a proline (P) with a serine (S) at position 1783 creating a premature stop signal in the new reading frame noted as p.R80Pfs*69. The substitution is predicted to result in a non-functional PDCH15 protein, either through protein truncation or nonsense-mediated mRNA decay. This mutation is considered a non-tolerated amino acid change based on in silico prediction algorithms (disease causing), and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH, Bethesda MD), but it has been described in 12 alleles out of 50254, in the ExAC database, all of them belonging to heterozygous carries of Latino origin. Based on these findings and the limited literature regarding this substitution we consider it as a likely pathogenic variant. |
Invitae | RCV000961061 | SCV001108090 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000961061 | SCV002021623 | likely pathogenic | not provided | 2022-11-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671747 | SCV002075571 | likely benign | Usher syndrome type 1F | 2020-08-19 | no assertion criteria provided | clinical testing |