ClinVar Miner

Submissions for variant NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter)

dbSNP: rs786205528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171297 SCV000221494 likely pathogenic not provided criteria provided, single submitter research
Baylor Genetics RCV001331356 SCV001523381 uncertain significance Epilepsy, familial adult myoclonic, 2 2019-09-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800310 SCV005423526 uncertain significance not specified 2024-10-02 criteria provided, single submitter clinical testing Variant summary: ADRA2B c.664C>T (p.Arg222X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, however current evidence is not sufficient to establish loss of function as a mechanism for disease. The variant was absent in 248014 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.664C>T has been reported in the literature in individuals affected with intellectual disability or neurodevelopmental disorders without strong evidence of causality (e.g. Abouelhoda_2016, Monies_2019, Al Abdi_2023). These reports do not provide unequivocal conclusions about association of the variant with ADRA2B-Related Disorders. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 27124789, 31130284, 37644014, 27431290). ClinVar contains an entry for this variant (Variation ID: 191117). Based on the evidence outlined above, the variant was classified as uncertain significance.

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