Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000755909 | SCV000883559 | likely pathogenic | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | The p.Val363fs variant (rs747955135) was reported in one homozygote patient with Usher Syndrome type I (Astuto 2002). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.01 percent in the Latino population (identified on 5 out of 33,582 chromosomes). This variant causes a frameshift by deleting a single nucleotide in exon 7 predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Given the current evidence, this variant is considered to be likely pathogenic. |
| Gene |
RCV000755909 | SCV001168578 | pathogenic | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 12075507) |
| Labcorp Genetics |
RCV000755909 | SCV001391376 | pathogenic | not provided | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val363Serfs*20) 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). This variant is present in population databases (rs747955135, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 12075507). ClinVar contains an entry for this variant (Variation ID: 618009). For these reasons, this variant has been classified as Pathogenic. |
| Wangler Lab, |
RCV002467453 | SCV002762676 | pathogenic | Autosomal recessive nonsyndromic hearing loss 12 | criteria provided, single submitter | clinical testing | The frameshift CDH23 variant at c.1087del (p.V363Sfs*20) was seen on exome through the Texome project (R01HG011795). It was previously reported in individuals with Usher syndrome type 1(PMID: 12075507).This variant has not been observed in gnomAD (PM2). This frameshift variant is located in exon 11 of 70 and is predicted to be deleterious (PVS1). We classify this variant as pathogenic. | |
| Baylor Genetics | RCV003472274 | SCV004210645 | pathogenic | Pituitary adenoma 5, multiple types | 2023-12-16 | criteria provided, single submitter | clinical testing |