Submissions for variant NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) (rs375851168)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517235	SCV000615855	uncertain significance	not specified	2017-03-29	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000765039	SCV000896236	uncertain significance	Brachyrachia (short spine dysplasia); Digital arthropathy-brachydactyly, familial; Metatrophic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepiphyseal dysplasia Maroteaux type; Distal spinal muscular atrophy, congenital nonprogressive; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV001241644	SCV001414675	uncertain significance	Charcot-Marie-Tooth disease axonal type 2C	2019-10-07	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with serine at codon 809 of the TRPV4 protein (p.Gly809Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs375851168, ExAC 0.01%). This variant has not been reported in the literature in individuals with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 448709). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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