Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731760 | SCV000859610 | uncertain significance | not provided | 2018-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855665 | SCV002188247 | uncertain significance | Nephronophthisis | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with proline at codon 1351 of the NPHP4 protein (p.Thr1351Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs746129070, ExAC 0.002%). 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: 596050). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |