ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) (rs796053166)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189180 SCV000242812 pathogenic not provided 2016-08-04 criteria provided, single submitter clinical testing The Arg1882Gly missense change has not been published as a pathogenic variant , nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Arg1882Gly in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a positively charged Arginine residue is replaced by an uncharged, non-polar Glycine residue. It alters a highly conserved position in the C-terminal region of the protein; however, missense variants have not been reported at nearby codons in association with epilepsy. Some in silico algorithms predict that Arg1882Gly may be damaging to protein structure/function, while another model suggests it may be benign. Therefore, based on the currently available information, it is unclear whether Arg1882Gly is a disease-causing variant or a rare benign variant.

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