ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2360C>T (p.Ala787Val)

gnomAD frequency: 0.00002  dbSNP: rs367868255
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001281008 SCV001468407 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-12-08 criteria provided, single submitter clinical testing ADAR NM_001111.4 exon 7 p.Ala787Val (c.2360C>T): This variant has not been reported in the literature but is present in 0.005% (2/35440) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-154562796-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001281008 SCV002276609 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-07-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 787 of the ADAR protein (p.Ala787Val). This variant is present in population databases (rs367868255, gnomAD 0.006%). 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: 992535). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV002541757 SCV003725234 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.2360C>T (p.A787V) alteration is located in exon 7 (coding exon 7) of the ADAR gene. This alteration results from a C to T substitution at nucleotide position 2360, causing the alanine (A) at amino acid position 787 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339579 SCV004050347 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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