ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.957G>A (p.Pro319=) (rs766888803)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767988 SCV000898731 uncertain significance Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 2018-10-24 criteria provided, single submitter clinical testing GRIN1 NM_007327.3 exon 6 p.Pro319= (c.957G>A): This variant has not been reported in the literature and is present in 0.03% (6/19618) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/9-140051478-G-A). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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