ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser)

gnomAD frequency: 0.00003  dbSNP: rs940393676
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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 RCV001907726 SCV002130761 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 439 of the ADAR protein (p.Asn439Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1364877). 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.
Ambry Genetics RCV002550331 SCV003631358 uncertain significance Inborn genetic diseases 2022-06-06 criteria provided, single submitter clinical testing The c.1316A>G (p.N439S) alteration is located in exon 2 (coding exon 2) of the ADAR gene. This alteration results from a A to G substitution at nucleotide position 1316, causing the asparagine (N) at amino acid position 439 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339768 SCV004050372 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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