ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.164C>T (p.Pro55Leu)

gnomAD frequency: 0.00003  dbSNP: rs187076847
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309356 SCV001498852 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 55 of the ADAR protein (p.Pro55Leu). This variant is present in population databases (rs187076847, gnomAD 0.05%). This missense change has been observed in individual(s) with ADAR-related conditions (PMID: 30564185). ClinVar contains an entry for this variant (Variation ID: 1011541). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV001309356 SCV002777242 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-07-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339587 SCV004050395 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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