ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.990C>G (p.Asn330Lys)

dbSNP: rs1554320453
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519214 SCV000622067 uncertain significance not provided 2017-11-02 criteria provided, single submitter clinical testing The N330K variant in the SEMA3E gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The N330K variant is not observed in large population cohorts (Lek et al., 2016). The N330K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Asparagine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret N330K as a variant of uncertain significance

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