Submissions for variant NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) (rs751139506)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000699390	SCV000828097	uncertain significance	Charcot-Marie-Tooth disease type 2C	2018-04-06	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with valine at codon 312 of the TRPV4 protein (p.Ala312Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs751139506, 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Institute of Human Genetics,Klinikum rechts der Isar	RCV000699390	SCV001149970	likely pathogenic	Charcot-Marie-Tooth disease type 2C	2020-01-16	criteria provided, single submitter	clinical testing

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