ClinVar

Description

This variant is denoted NBN c.1701C>G at the cDNA level, p.Phe567Leu (F567L) at the protein level, and results in the change of a Phenylalanine to a Leucine (TTC>TTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NBN Phe567Leu was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Phenylalanine and Leucine share similar properties, this is considered a conservative amino acid substitution. NBN Phe567Leu occurs at a position that is highly variable across species and tolerates Leucine in several species. This variant is not located in a known functional domain. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether NBN Phe567Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.