Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844738 | SCV002104026 | pathogenic | Usher syndrome type 1F | 2022-02-07 | criteria provided, single submitter | clinical testing | Variant summary: PCDH15 c.423_430dupTGACAACT (p.Ser144LeufsX16) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250702 control chromosomes (gnomAD). c.423_430dupTGACAACT has been reported in the literature in individuals affected with Usher Syndrome (Roux_2006, LeGudard_2007). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Labcorp Genetics |
RCV002543332 | SCV003441642 | pathogenic | not provided | 2022-04-02 | 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: 1343721). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 16679490). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser144Leufs*16) in the PCDH15 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCDH15 are known to be pathogenic (PMID: 11398101, 11487575, 14570705). |
| Fulgent Genetics, |
RCV005050417 | SCV005677234 | pathogenic | Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F | 2024-04-15 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003475107 | SCV004200847 | pathogenic | Autosomal recessive nonsyndromic hearing loss 23 | 2023-02-27 | flagged submission | clinical testing |