ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln)

gnomAD frequency: 0.00004  dbSNP: rs149091481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351130 SCV001545570 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 360 of the ADAR protein (p.Arg360Gln). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1046556). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs149091481, gnomAD 0.04%).
Ambry Genetics RCV004036645 SCV004854561 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.1079G>A (p.R360Q) alteration is located in exon 2 (coding exon 2) of the ADAR gene. This alteration results from a G to A substitution at nucleotide position 1079, causing the arginine (R) at amino acid position 360 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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