ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2251C>T (p.Leu751Phe)

gnomAD frequency: 0.00001  dbSNP: rs1085307603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489795 SCV000576825 uncertain significance not provided 2017-04-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN2A gene. The L751F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L751F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Lysine are tolerated across species, and is predicted to be within the cytoplasmic loop between the first and second homologous domains. In silico analysis predicts this variant likely does not alter the protein structure/function. However, the L751F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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