ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) (rs398122822)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000032654 SCV000328705 pathogenic Aicardi-Goutieres syndrome 6 2015-01-22 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in ADAR (NM_001111.1, c.3019G>A) and APOB (NM_000384.2, c.2988_2994del) in a single individual with reported features of delayed speech, truncal hypotonia, stiffness and spasticity of lower extremities, possible abetalipoproteinemia, and recurrent dermatitis. The ADAR variant has previously been reported as pathogenic [PMID:15955093;PMID:24262145]. Additionally, this variant was identified de novo in another individual, a 4-year-old female with developmental delay, central hypotonia, peripheral hypertonia with spasticity, limb dystonia.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000032654 SCV000244028 likely pathogenic Aicardi-Goutieres syndrome 6 2013-06-27 no assertion criteria provided literature only
Fulgent Genetics,Fulgent Genetics RCV000762850 SCV000893210 pathogenic Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2018-10-31 criteria provided, single submitter clinical testing
GeneReviews RCV000032654 SCV000147905 pathogenic Aicardi-Goutieres syndrome 6 2014-03-13 no assertion criteria provided literature only
OMIM RCV000032653 SCV000056416 pathogenic Symmetrical dyschromatosis of extremities 2014-12-01 no assertion criteria provided literature only
OMIM RCV000032654 SCV000056417 pathogenic Aicardi-Goutieres syndrome 6 2014-12-01 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000032653 SCV000255319 likely pathogenic Symmetrical dyschromatosis of extremities 2013-05-14 criteria provided, single submitter clinical testing

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