ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3289C>A (p.His1097Asn)

gnomAD frequency: 0.00003  dbSNP: rs200537032
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270408 SCV000348537 likely benign Symmetrical dyschromatosis of extremities 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000817326 SCV000957880 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1097 of the ADAR protein (p.His1097Asn). This variant is present in population databases (rs200537032, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 292761). 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 with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV003137901 SCV003824988 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165784 SCV003868082 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.3289C>A (p.H1097N) alteration is located in exon 13 (coding exon 13) of the ADAR gene. This alteration results from a C to A substitution at nucleotide position 3289, causing the histidine (H) at amino acid position 1097 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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