ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)

gnomAD frequency: 0.00004  dbSNP: rs556625861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043773 SCV001207535 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-08-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 841529). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs556625861, gnomAD 0.03%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 601 of the ADAR protein (p.Thr601Ala).
Ambry Genetics RCV002552536 SCV003579800 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.1801A>G (p.T601A) alteration is located in exon 4 (coding exon 4) of the ADAR gene. This alteration results from a A to G substitution at nucleotide position 1801, causing the threonine (T) at amino acid position 601 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339440 SCV004050359 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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