Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730658 | SCV000858410 | uncertain significance | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001318396 | SCV001509095 | uncertain significance | Nephronophthisis | 2022-07-06 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 595176). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs373624347, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 363 of the NPHP4 protein (p.Val363Met). |