Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000509344 | SCV000334115 | uncertain significance | not provided | 2015-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000509344 | SCV000617025 | uncertain significance | not provided | 2016-11-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SCN2A gene. The R1918C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1918C variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in an external variant database. The R1918C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a conserved residue predicted to be within the C-terminal cytoplasmic domain, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with SCN2A-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Ambry Genetics | RCV000718780 | SCV000849644 | likely benign | History of neurodevelopmental disorder | 2019-05-06 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other strong data supporting benign classification |
Ce |
RCV000509344 | SCV001152497 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001034485 | SCV001197842 | likely benign | Seizures, benign familial infantile, 3; Early infantile epileptic encephalopathy 11 | 2019-08-07 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509344 | SCV000607254 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Genome |
RCV001265283 | SCV001443400 | uncertain significance | Complex neurodevelopmental disorder | 2018-02-16 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-02-16 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2016-11-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |