ClinVar

Description

The V15A variant has not been published in association with Hyper-IgE syndrome or other related Mendelian disorders to our knowledge. It was observed in two heterozygous individuals with acute lymphoblastic leukemia (Kalender et al., 2012; Sanda et al., 2013). The variant is observed in 59/16464 (0.36%) alleles from individuals of South Asian background in the ExAC dataset, including 2 homozygous individuals (Lek et al., 2016). V15A is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.