ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) (rs770149544)

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Total submissions: 3
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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 type 2C 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 62 of the TRPV4 protein (p.Asp62Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs770149544, ExAC 0.002%). This variant has been reported in an individual affected with  Charcot–Marie–Tooth disease (CMT) type 2C and her brother affected with congenital bilateral talipes (PMID: 25900305). 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"). 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); 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 type 2C; Avascular necrosis of femoral head, primary, 2 2018-10-31 criteria provided, single submitter clinical testing
Genesis Genome Database RCV000856935 SCV000999499 uncertain significance Distal spinal muscular atrophy 2019-08-14 no assertion criteria provided research

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