Submissions for variant NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) (rs373103155)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000645557	SCV000767307	uncertain significance	Charcot-Marie-Tooth disease type 2C	2017-11-03	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with lysine at codon 448 of the TRPV4 protein (p.Glu448Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs373103155, ExAC 0.002%). This variant has not been reported in the literature in individuals with TRPV4-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"). 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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