Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481007 | SCV000573508 | pathogenic | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | The c.1428dupG variant in the CDH23 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1428dupG variant causes a frameshift starting with codon Threonine 477, changes this amino acid to an Aspartic acid residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Thr477AspfsX10. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1428dupG variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1428dupG as a pathogenic variant. |
Ambry Genetics | RCV000623791 | SCV000741975 | pathogenic | Inborn genetic diseases | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000481007 | SCV001206221 | pathogenic | not provided | 2023-04-26 | 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: 423771). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. This variant is present in population databases (rs750803248, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Thr477Aspfs*10) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). |
Johns Hopkins Genomics, |
RCV001805102 | SCV002051771 | pathogenic | Usher syndrome type 1D | 2021-12-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003476174 | SCV004212380 | likely pathogenic | Pituitary adenoma 5, multiple types | 2022-02-10 | criteria provided, single submitter | clinical testing |