Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698320 | SCV000826980 | uncertain significance | Charcot-Marie-Tooth disease axonal 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, |
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 axonal type 2C; Avascular necrosis of femoral head, primary, 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173256 | SCV001336339 | uncertain significance | Charcot-Marie-Tooth disease | 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 |