ClinVar Miner

Submissions for variant NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)

dbSNP: rs2150279471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787599 SCV002031065 uncertain significance not provided 2021-06-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27535533)
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003125908 SCV003803813 uncertain significance Autism spectrum disorder 2022-08-25 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225751 SCV003806974 uncertain significance Intellectual disability, autosomal recessive 63 2022-09-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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