ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2057G>T (p.Ser686Ile) (rs796053190)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189227 SCV000242859 uncertain significance not provided 2013-05-16 criteria provided, single submitter clinical testing The Ser686Ile missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Ser686Ile is a non-conservative amino acid substitution as a polar Serine residue is replaced by a non-polar Isoleucine residue. It alters a poorly conserved position in the cytoplasmic loop between the 1st and 2nd transmembrane domains; however, another missense mutation associated with epilepsy has been reported in this domain. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. The variant is found in EPILEPSY panel(s).

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