|(A;G)||3||Possible cryopyrin-associated syndrome mutation|
|(G;G)||0||common in clinvar|
rs145268073, also known as c.1463G>A, p.Arg488Lys, R488K and even R490K, is a rare variant in the NLRP3 gene on chromosome 1.
The clinical impact of this variant is unclear. It was originally reported (in 2004) as being associated with cryopyrin-associated disorders, a group of rare, dominantly inherited, autoinflammatory diseases.
At that time, it was noted that some carriers of the variant were apparently unaffected though, leading to the conclusion that this may be a mutation with quite varying penetrance. In ClinVar, this mutation is tagged by different submitters as either likely to be pathogenic or likely to be benign, however, one submitter also notes that "the R490K variant has been observed in multiple patients ... with clinical phenotypes, including two patients with hearing loss, consistent with NLRP3-related periodic fevers syndromes".
Overall, the jury is clearly out on whether this variant is clinically meaningful or not.
|Disease||Familial cold urticaria not provided Familial cold autoinflammatory syndrome|
|CLNDBN||Familial cold urticaria not provided Familial cold autoinflammatory syndrome|
|CLNACC||RCV000084193.1, RCV000223458.2, RCV000360373.1,|