Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000592720 | SCV000702610 | uncertain significance | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764467 | SCV000895532 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001035032 | SCV001198339 | uncertain significance | Nephronophthisis | 2019-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with valine at codon 315 of the NPHP3 protein (p.Asp315Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (rs149565564, ExAC 0.01%). This variant has not been reported in the literature in individuals with NPHP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497874). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |