ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)

gnomAD frequency: 0.00001  dbSNP: 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 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); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; 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 2019-10-03 criteria provided, single submitter clinical testing 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. 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. 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). This variant is present in population databases (rs375851168, ExAC 0.01%). 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.

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