ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.841A>G (p.Ser281Gly)

dbSNP: rs1557887436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735381 SCV000854536 uncertain significance Aplasia cutis congenita; Small nail; Hypermelanotic macule; Hypoplastic toenails; Nail pterygium; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536538 SCV002956209 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 281 of the ADAR protein (p.Ser281Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ADAR-related conditions (PMID: 30755392). ClinVar contains an entry for this variant (Variation ID: 598995). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Genome-Nilou Lab RCV003338776 SCV004050384 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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