ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) (rs139899756)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000509344 SCV000334115 uncertain significance not provided 2015-08-10 criteria provided, single submitter clinical testing
GeneDx 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 uncertain significance History of neurodevelopmental disorder 2016-10-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GenomeConnect, ClinGen 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.

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