Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457307 | SCV000546361 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-12-17 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with methionine at codon 173 of the SH3TC2 protein (p.Leu173Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs147633804, ExAC 0.01%) but has not been reported in the literature in individuals with a SH3TC2-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000765821 | SCV000897214 | uncertain significance | Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000992973 | SCV001145614 | uncertain significance | not provided | 2019-04-25 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001174034 | SCV001337154 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |