ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) (rs201465097)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805221 SCV000945169 uncertain significance CHARGE association 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 108 of the SEMA3E protein (p.Lys108Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs201465097, ExAC 0.2%). This variant has not been reported in the literature in individuals with SEMA3E-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001567157 SCV001790797 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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