ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2203G>A (p.Ala735Thr)

dbSNP: rs2101619399
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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 RCV001952811 SCV002210560 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-07-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1434141). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 735 of the ADAR protein (p.Ala735Thr).
PreventionGenetics, part of Exact Sciences RCV004529058 SCV004111398 uncertain significance ADAR-related disorder 2023-06-02 criteria provided, single submitter clinical testing The ADAR c.2203G>A variant is predicted to result in the amino acid substitution p.Ala735Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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