Submissions for variant NM_001111.5(ADAR):c.2675G>A (p.Arg892His)

dbSNP: rs398122892

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003764649	SCV004578878	uncertain significance	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2023-10-10	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 892 of the ADAR protein (p.Arg892His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Aicardi Goutieres syndrome (PMID: 23001123). ClinVar contains an entry for this variant (Variation ID: 39455). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADAR protein function. 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.
OMIM	RCV000032650	SCV000056413	pathogenic	Aicardi-Goutieres syndrome 6	2012-11-01	no assertion criteria provided	literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000032650	SCV000244026	likely pathogenic	Aicardi-Goutieres syndrome 6	2013-06-27	no assertion criteria provided	literature only