Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595353 | SCV000705986 | uncertain significance | not provided | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001234755 | SCV001407414 | uncertain significance | Nephronophthisis | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1369 of the NPHP4 protein (p.Pro1369Leu). This variant is present in population databases (rs746256511, gnomAD 0.02%). 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: 500165). 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. |
Ambry Genetics | RCV003160035 | SCV003894805 | uncertain significance | Inborn genetic diseases | 2023-02-14 | criteria provided, single submitter | clinical testing | The c.4106C>T (p.P1369L) alteration is located in exon 29 (coding exon 28) of the NPHP4 gene. This alteration results from a C to T substitution at nucleotide position 4106, causing the proline (P) at amino acid position 1369 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |