ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)

gnomAD frequency: 0.00001  dbSNP: rs754538298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228692 SCV001401104 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-07-16 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 955967). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 748 of the ADAR protein (p.Asp748Asn).
Ambry Genetics RCV002563144 SCV003551496 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.2242G>A (p.D748N) alteration is located in exon 6 (coding exon 6) of the ADAR gene. This alteration results from a G to A substitution at nucleotide position 2242, causing the aspartic acid (D) at amino acid position 748 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339541 SCV004050350 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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