ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria RCV002463982 SCV002754577 likely pathogenic Intellectual disability, autosomal dominant 8 2022-11-10 criteria provided, single submitter clinical testing The c.1447A>C (p.Lys483Gln) variant has been identified in our laboratory in a 10-year-old female with delayed psychomotor development, pharmacoresistant epilepsy and focal cortical dysplasia type 1. It was identified as de novo (maternity and paternity confirmed) in the patient. This variant was absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Has not been previously published as pathogenic or benign to our knowledge. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function (MutationTaster, SIFT, PolyPhen, CADD). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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