ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)

gnomAD frequency: 0.00001  dbSNP: rs770149544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698320 SCV000826980 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 62 of the TRPV4 protein (p.Asp62Asn). This variant is present in population databases (rs770149544, gnomAD 0.003%). This missense change has been observed in individual(s) with TRPV4-related conditions (PMID: 25900305). ClinVar contains an entry for this variant (Variation ID: 575960). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV000765043 SCV000896240 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
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173256 SCV001336339 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002406606 SCV002715163 uncertain significance Inborn genetic diseases 2021-04-23 criteria provided, single submitter clinical testing The p.D62N variant (also known as c.184G>A), located in coding exon 1 of the TRPV4 gene, results from a G to A substitution at nucleotide position 184. The aspartic acid at codon 62 is replaced by asparagine, an amino acid with highly similar properties. This variant was detected in an individual with Charcot-Marie-Tooth disease type 2C and her brother with bilateral talipes (Evangelista T et al. Neuromuscul Disord, 2015 Jun;25:516-21). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genesis Genome Database RCV000856935 SCV000999499 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research

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