ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3018C>T (p.Asn1006=)

gnomAD frequency: 0.00063  dbSNP: rs151241634
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000327541 SCV000348538 benign Symmetrical dyschromatosis of extremities 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000808772 SCV000948892 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-27 criteria provided, single submitter clinical testing This sequence change affects codon 1006 of the ADAR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAR protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs151241634, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 292762). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
CeGaT Center for Human Genetics Tuebingen RCV001529504 SCV004124867 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ADAR: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529504 SCV001743071 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529504 SCV001929793 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529504 SCV001970713 likely benign not provided no assertion criteria provided clinical testing

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