Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767988 | SCV000898731 | uncertain significance | Intellectual disability, autosomal dominant 8 | 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. |
Invitae | RCV000767988 | SCV003299345 | likely benign | Intellectual disability, autosomal dominant 8 | 2022-03-27 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224407 | SCV003920020 | uncertain significance | Intellectual disability, autosomal dominant 8; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 | 2021-03-30 | 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. |