Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001041746 | SCV001205381 | uncertain significance | Nephronophthisis | 2022-11-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 489 of the IQCB1 protein (p.Arg489Gln). 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 not expected to disrupt IQCB1 protein function. ClinVar contains an entry for this variant (Variation ID: 839885). This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. This variant is present in population databases (rs778777318, gnomAD 0.004%). |
| Illumina Laboratory Services, |
RCV001147492 | SCV001308319 | uncertain significance | Senior-Loken syndrome 5 | 2017-10-11 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Fulgent Genetics, |
RCV001147492 | SCV002791571 | uncertain significance | Senior-Loken syndrome 5 | 2021-11-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003243418 | SCV003951291 | likely benign | Inborn genetic diseases | 2023-04-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |