ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) (rs1553463096)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657520 SCV000779256 pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing The c.4727delG variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4727delG variant causes a frameshift starting with codon Glycine 1576, changes this amino acid to a Glutamate residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Gly1576GlufsX5. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4727delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4727delGas a pathogenic variant.
GenomeConnect, ClinGen RCV000844957 SCV000986782 not provided SCN2A-related disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 05/18/2018 by GTR ID 26957. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.