Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734450 | SCV000862594 | uncertain significance | not provided | 2018-07-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855813 | SCV002230846 | uncertain significance | Nephronophthisis | 2021-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with glutamine at codon 1301 of the NPHP3 protein (p.Lys1301Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs769027723, ExAC 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: 598130). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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. |
Fulgent Genetics, |
RCV002499375 | SCV002806859 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2022-01-06 | criteria provided, single submitter | clinical testing |