Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596806 | SCV000705417 | uncertain significance | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001046811 | SCV001210728 | uncertain significance | Nephronophthisis | 2022-11-07 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 499758). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 933 of the NPHP4 protein (p.Arg933Trp). |
Fulgent Genetics, |
RCV002491198 | SCV002801335 | uncertain significance | Nephronophthisis 4; Senior-Loken syndrome 4 | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392430 | SCV004120113 | uncertain significance | NPHP4-related condition | 2022-08-26 | criteria provided, single submitter | clinical testing | The NPHP4 c.2797C>T variant is predicted to result in the amino acid substitution p.Arg933Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5937173-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |