Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730402 | SCV000858135 | uncertain significance | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002536444 | SCV003008322 | uncertain significance | Nephronophthisis | 2022-02-20 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 594982). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs760369582, gnomAD 0.01%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1336 of the NPHP4 protein (p.Ile1336Val). |
Prevention |
RCV003411674 | SCV004106118 | uncertain significance | NPHP4-related condition | 2023-01-19 | criteria provided, single submitter | clinical testing | The NPHP4 c.4006A>G variant is predicted to result in the amino acid substitution p.Ile1336Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-5924084-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |