ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.220G>A (p.Val74Met) (rs1553564231)

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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 RCV000678327 SCV000804389 uncertain significance Early infantile epileptic encephalopathy 11 2018-03-09 criteria provided, single submitter provider interpretation This variant was identified in a 9 year old female with intellectual disability, multiple congenital anomalies, and dysmorphic facial features. It was inherited from a healthy father who had febrile seizures as a child, as did his brother who has not been tested. This variant is absent from the gnomAD database and computational prediction models are inconsistent. This variant has not been reported previously in the literature, to our knowledge. Clinical correlation with SCN2A-related disorders was thought to be poor. Additionally, whole exome sequencing also identified an additional variant of uncertain significance.

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