ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)

gnomAD frequency: 0.00005  dbSNP: rs199624080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806475 SCV000946478 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 68 of the TRPV4 protein (p.Arg68Cys). This variant is present in population databases (rs199624080, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 651174). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TRPV4 protein function. 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173257 SCV001336340 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501085 SCV002806901 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 2022-01-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480845 SCV004226380 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing BP5

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