Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV001818079 | SCV002067870 | likely benign | not specified | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001818079 | SCV002745063 | uncertain significance | not specified | 2022-09-24 | criteria provided, single submitter | clinical testing | The p.I850V variant (also known as c.2548A>G), located in coding exon 13 of the NPAT gene, results from an A to G substitution at nucleotide position 2548. The isoleucine at codon 850 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV002542714 | SCV003242215 | uncertain significance | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 850 of the NPAT protein (p.Ile850Val). This variant is present in population databases (rs140098074, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with NPAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1338708). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |