Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670157 | SCV000794981 | likely pathogenic | Finnish congenital nephrotic syndrome | 2017-10-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000670157 | SCV004191465 | pathogenic | Finnish congenital nephrotic syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003558504 | SCV004297299 | pathogenic | not provided | 2023-07-16 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs34124941, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with nephrotic syndrome (PMID: 28117080). ClinVar contains an entry for this variant (Variation ID: 554509). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Asp1021Glyfs*6) in the NPHS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHS1 are known to be pathogenic (PMID: 11317351, 11854170, 12039988). |