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

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Total submissions: 1

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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.

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