Submissions for variant NM_021625.4(TRPV4):c.167G>A (p.Arg56His) (rs767169716)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000645536	SCV000767284	uncertain significance	Charcot-Marie-Tooth disease axonal type 2C	2017-09-28	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with histidine at codon 56 of the TRPV4 protein (p.Arg56His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs767169716, ExAC 0.01%). 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: "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.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173260	SCV001336343	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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