Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034408 | SCV001197754 | likely benign | Intellectual disability, autosomal dominant 8 | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454261 | SCV002736171 | pathogenic | Inborn genetic diseases | 2018-05-25 | criteria provided, single submitter | clinical testing | The c.2414delC pathogenic mutation, located in coding exon 17 of the GRIN1 gene, results from a deletion of one nucleotide at nucleotide position 2414, causing a translational frameshift with a predicted alternate stop codon (p.P805Lfs*16). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation |