Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592906 | SCV000709006 | uncertain significance | not provided | 2018-06-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765247 | SCV000896494 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001054486 | SCV001218803 | uncertain significance | Nephronophthisis | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1059 of the NPHP4 protein (p.Ala1059Thr). This variant is present in population databases (rs202004152, gnomAD 0.1%). 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: 502319). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NPHP4 protein function. 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. |
Illumina Laboratory Services, |
RCV001098353 | SCV001254713 | uncertain significance | Nephronophthisis 4 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV001098354 | SCV001254714 | uncertain significance | Senior-Loken syndrome 4 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV000592906 | SCV001997186 | uncertain significance | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Mayo Clinic Laboratories, |
RCV000592906 | SCV002542174 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | BP4 |
Ce |
RCV000592906 | SCV004128043 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | NPHP4: BP4 |
Genome |
RCV000765247 | SCV001749809 | not provided | Nephronophthisis 4; Senior-Loken syndrome 4 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 08-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. | |
Genome Diagnostics Laboratory, |
RCV000592906 | SCV001978413 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000592906 | SCV001980581 | likely benign | not provided | no assertion criteria provided | clinical testing |