ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) (rs760538597)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000656707 SCV000777892 uncertain significance Autism spectrum disorder 2018-05-28 criteria provided, single submitter clinical testing The p.Arg70Cys CACNB2 variant is extremely rare in the general population and it is homozygous in this patient. No other plausible variants in candidate genes were identified. It is predicted "possibly damaging" bay PolyPhen and "deletrious" by SIFT. CACNB2 variants can cause Brugada syndrome but were also identified as possibly predisposing to Autism Spectrum Disorder.

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