Submissions for variant NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met) (rs375574238)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000687393	SCV000814957	uncertain significance	Charcot-Marie-Tooth disease type 2C	2018-03-05	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with methionine at codon 505 of the TRPV4 protein (p.Thr505Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs375574238, ExAC 0.02%). 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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