ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3062C>T (p.Thr1021Met)

dbSNP: rs772773296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348622 SCV001542929 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-09-17 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) 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. ClinVar contains an entry for this variant (Variation ID: 1044386). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs772773296, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1021 of the ADAR protein (p.Thr1021Met).
Revvity Omics, Revvity RCV003490210 SCV004238938 uncertain significance not provided 2023-07-19 criteria provided, single submitter clinical testing

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