Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001307105 | SCV001496500 | uncertain significance | Hereditary insensitivity to pain with anhidrosis | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 624 of the NTRK1 protein (p.Val624Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NTRK1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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. |
Gene |
RCV001773614 | SCV002002964 | uncertain significance | not provided | 2020-02-12 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001307105 | SCV004048755 | uncertain significance | Hereditary insensitivity to pain with anhidrosis | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001307105 | SCV002090064 | uncertain significance | Hereditary insensitivity to pain with anhidrosis | 2020-07-22 | no assertion criteria provided | clinical testing |