Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731225 | SCV000859012 | uncertain significance | not provided | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001102422 | SCV001259093 | uncertain significance | Senior-Loken syndrome 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001102423 | SCV001259094 | uncertain significance | Nephronophthisis 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001203996 | SCV001375182 | uncertain significance | Nephronophthisis | 2022-10-24 | criteria provided, single submitter | clinical testing | 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. 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 expected to disrupt NPHP4 protein function. ClinVar contains an entry for this variant (Variation ID: 156399). This variant is also known as p.G221D. This missense change has been observed in individual(s) with nephronopthisis (PMID: 26920127). This variant is present in population databases (rs587783027, gnomAD 0.1%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 733 of the NPHP4 protein (p.Gly733Asp). |
Fulgent Genetics, |
RCV002492524 | SCV002784571 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Laboratory, |
RCV000144481 | SCV000189616 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing |