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

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

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 axonal type 2C	2019-03-28	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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.