ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)

dbSNP: rs1557636777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System RCV000678289 SCV000804346 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2017-05-25 criteria provided, single submitter provider interpretation This is a 26 year old female with generalized anxiety disorder, depression, obsessive compulsive disorder, learning disability, speech delay hypernasal speech, hypersomnia, spastic diplegia, and scoliosis. There is no history of ataxia. There is a maternal history of depression and anxiety and paternal history of dyslexia. This p.N77D variant is absent from the gnomAD database. Computational prediction models are inconsistent. Whole exome sequencing identified 2 additional variants of uncertain significance.

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