Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514120 | SCV003439649 | pathogenic | not provided | 2022-02-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 18424). This premature translational stop signal has been observed in individual(s) with nephrotic syndrome (PMID: 18709391, 20591883). This variant is present in population databases (rs267606955, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg1246*) in the PLCE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PLCE1 are known to be pathogenic (PMID: 17086182, 20591883). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002444 | SCV000022602 | pathogenic | Nephrotic syndrome, type 3 | 2010-07-01 | no assertion criteria provided | literature only |