Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Medical Genetics and Applied Genomics, |
RCV001682645 | SCV001905532 | pathogenic | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002506728 | SCV002808760 | pathogenic | Retinitis pigmentosa; Retinitis pigmentosa 61; Usher syndrome type 3A | 2022-05-17 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004815586 | SCV005073060 | pathogenic | Retinal dystrophy | 2022-01-01 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004770188 | SCV005380761 | pathogenic | Usher syndrome | 2024-08-09 | criteria provided, single submitter | clinical testing | Variant summary: CLRN1 c.148_149insTGTC (p.Ser50LeufsX12) 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. The variant allele was found at a frequency of 9.5e-05 in 251458 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in CLRN1 causing Usher Syndrome (9.5e-05 vs 0.0014), allowing no conclusion about variant significance. c.148_149insTGTC has been reported in the literature in individuals affected with Usher Syndrome. 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. The following publication have been ascertained in the context of this evaluation (PMID: 22135276). ClinVar contains an entry for this variant (Variation ID: 1275768). Based on the evidence outlined above, the variant was classified as pathogenic. |