ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2894C>T (p.Pro965Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306401 SCV002601531 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Reported in association with dyschromatosis symmetrica hereditaria (Wang et al., 2010; Hu et al., 2019); however, detailed clinical information was not provided; Also reported in the compound heterozygous state with the p.(P193A) variant in a patient referred for genetic testing for dystonia (Graziola et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29536976, 20430589, 31737037)
Labcorp Genetics (formerly Invitae), Labcorp RCV003775025 SCV004569094 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-01-09 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1723840). This missense change has been observed in individual(s) with autosomal dominant dyschromatosis symmetrica hereditaria (PMID: 20430589, 29536976). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 965 of the ADAR protein (p.Pro965Leu).

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