Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592646 | SCV000706340 | uncertain significance | not provided | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532527 | SCV003007129 | uncertain significance | Nephronophthisis | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 344 of the NPHP4 protein (p.Arg344Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs777428281, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 500412). 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: "Probably 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. |