Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594673 | SCV000704462 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001373466 | SCV001570183 | uncertain significance | Nephronophthisis | 2022-03-18 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 164 of the NPHP4 protein (p.His164Tyr). This variant is present in population databases (rs761063669, gnomAD 0.03%). This missense change has been observed in individual(s) with congenital heart defects and situs inversus (PMID: 22550138). ClinVar contains an entry for this variant (Variation ID: 499123). 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: "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. |
Gene |
RCV000594673 | SCV001986061 | uncertain significance | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | Identified in a patient with cardiac laterality defects in published literature, however, this individual's presumably unaffected father also harbored this variant (French et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22550138) |