Submissions for variant NM_020661.4(AICDA):c.160G>C (p.Gly54Arg)

dbSNP: rs1565509771

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000695875	SCV000824399	uncertain significance	Hyper-IgM syndrome type 2	2018-03-25	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with arginine at codon 54 of the AICDA protein (p.Gly54Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AICDA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but 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.
CeGaT Center for Human Genetics Tuebingen	RCV001091143	SCV001247014	uncertain significance	not provided	2019-08-01	criteria provided, single submitter	clinical testing