Submissions for variant NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) (rs111300014)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000697569	SCV000826188	uncertain significance	CHARGE association	2019-10-28	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with tryptophan at codon 500 of the SEMA3E protein (p.Arg500Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs111300014, ExAC 0.01%). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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