Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487276 | SCV000572697 | pathogenic | not provided | 2017-01-30 | criteria provided, single submitter | clinical testing | The c.3391delA variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3391delA variant causes a frameshift starting with codon Serine 1131, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Ser1131AlafsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3391delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.3391delA as a pathogenic variant. |
Genome |
RCV001265503 | SCV001443647 | pathogenic | Complex neurodevelopmental disorder | 2018-08-13 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2017-02-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |