Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000370773 | SCV000339880 | uncertain significance | not provided | 2016-03-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334395 | SCV001527235 | uncertain significance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-04-25 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Al Jalila Children's Genomics Center, |
RCV001731562 | SCV001984598 | uncertain significance | not specified | 2019-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855173 | SCV002135868 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 286441). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs201487756, gnomAD 0.05%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 3596 of the SYNE1 protein (p.Thr3596Ile). |
Revvity Omics, |
RCV000370773 | SCV003826495 | uncertain significance | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing |