Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725417 | SCV000336812 | uncertain significance | not provided | 2017-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001045590 | SCV001209453 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-01 | criteria provided, single submitter | clinical testing | 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 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"). ClinVar contains an entry for this variant (Variation ID: 130442). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs140780725, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1291 of the SYNE1 protein (p.Arg1291Trp). |
Fulgent Genetics, |
RCV002477297 | SCV002791414 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000725417 | SCV003825217 | uncertain significance | not provided | 2019-07-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118482 | SCV000152888 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |