Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506435 | SCV000605330 | uncertain significance | not specified | 2019-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727212 | SCV000706644 | uncertain significance | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000727212 | SCV001145923 | uncertain significance | not provided | 2019-03-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857276 | SCV002272075 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 7201 of the SYNE1 protein (p.Lys7201Arg). This variant is present in population databases (rs764715827, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 440316). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |