Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV000030741 | SCV002768673 | pathogenic | Karyomegalic interstitial nephritis | 2020-07-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 8 of 15). (P) 0252 - Variant is homozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0702 - Comparable variants have strong previous evidence for pathogenicity. Other variants also predicted to result in NMD, have been reported in patients with karyomegalic interstitial nephritis (ClinVar, PMID: 22772369, PMID: 32111193). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. This variant has been reported in two homozygous siblings with karyomegalic interstitial nephritis (PMID: 22772369). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
OMIM | RCV000030741 | SCV000053402 | pathogenic | Karyomegalic interstitial nephritis | 2012-07-08 | no assertion criteria provided | literature only |