Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469965 | SCV002766005 | likely pathogenic | Joubert syndrome and related disorders | 2022-11-09 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 18-20 in the NPHP1 gene. A presumed nomenclature of c.(1810+1_1811-1)_(*456_?)del has been designated for the purposes of this classification. Although exact breakpoints of this CNV are not known, it is expected to result in a large deletion encompassing the last 3 exons of the NPHP1 gene. The variant was absent in 21694 control chromosomes (gnomAD, Structural Variants dataset). Deletion of exons 18-20 has been reported in the literature in compound heterozygous individuals affected with juvenile nephronophthisis (Javorszky_2017). These data indicate that the variant is likely to 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 likely pathogenic. |