Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000592381 | SCV000702234 | uncertain significance | not provided | 2016-09-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001217627 | SCV001389474 | uncertain significance | Nephronophthisis | 2022-11-22 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP3 protein function. ClinVar contains an entry for this variant (Variation ID: 497620). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 29 of the NPHP3 protein (p.Glu29Asp). |
| Fulgent Genetics, |
RCV002491177 | SCV002783803 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2022-02-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002530995 | SCV003575079 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.87G>T (p.E29D) alteration is located in exon 1 (coding exon 1) of the NPHP3 gene. This alteration results from a G to T substitution at nucleotide position 87, causing the glutamic acid (E) at amino acid position 29 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Prevention |
RCV004740348 | SCV005361583 | uncertain significance | NPHP3-related disorder | 2024-05-24 | no assertion criteria provided | clinical testing | The NPHP3 c.87G>T variant is predicted to result in the amino acid substitution p.Glu29Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |