Submissions for variant NM_000626.4(CD79B):c.323C>T (p.Thr108Ile)

dbSNP: rs763307022

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000685183	SCV000812656	uncertain significance	Agammaglobulinemia 6, autosomal recessive	2018-06-05	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with isoleucine at codon 108 of the CD79B protein (p.Thr108Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs763307022, ExAC 0.02%). This variant has not been reported in the literature in individuals with CD79B-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.