Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000002443 | SCV001162819 | pathogenic | Nephrotic syndrome, type 3 | 2020-01-27 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV000002443 | SCV001335595 | pathogenic | Nephrotic syndrome, type 3 | 2020-04-24 | criteria provided, single submitter | clinical testing | A heterozygous nonsense variation in exon 1 of the PLCE1 gene that results in a stop codon and premature truncation of the protein at codon 321 was detected. The observed variant c.961C>T (p.Arg321Ter) has not been reported in the 1000 genomes and has a minor allele frequency of 0.002% in the ExAC databases. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. |
OMIM | RCV000002443 | SCV000022601 | pathogenic | Nephrotic syndrome, type 3 | 2010-07-01 | no assertion criteria provided | literature only |