rs267608673

Description

This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 372 of the POLR3A protein (p.Asp372Asn). This variant is present in population databases (rs267608673, gnomAD 0.003%). This missense change has been observed in individual(s) with POLR3A-related conditions (PMID: 21855841, 28459997). ClinVar contains an entry for this variant (Variation ID: 41240). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.