Submissions for variant NM_021625.4(TRPV4):c.472G>A (p.Val158Met) (rs746905653)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000518233	SCV000615859	uncertain significance	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Invitae	RCV000807452	SCV000947505	uncertain significance	Charcot-Marie-Tooth disease type 2C	2018-12-28	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 158 of the TRPV4 protein (p.Val158Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs746905653, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 448710). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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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