Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593072 | SCV000704759 | uncertain significance | not provided | 2016-12-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001854038 | SCV002195922 | uncertain significance | Nephronophthisis | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 694 of the NPHP3 protein (p.Lys694Glu). This variant is present in population databases (rs374742856, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 499325). 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 with a negative predictive value of 80%. 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. |
Fulgent Genetics, |
RCV002476303 | SCV002791363 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2022-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002531043 | SCV003672806 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.2080A>G (p.K694E) alteration is located in exon 14 (coding exon 14) of the NPHP3 gene. This alteration results from a A to G substitution at nucleotide position 2080, causing the lysine (K) at amino acid position 694 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Institute of Human Genetics, |
RCV004817799 | SCV005071733 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |