Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000713664 | SCV000344790 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713664 | SCV000844291 | uncertain significance | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803439 | SCV000943310 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1498 of the SYNE1 protein (p.Gln1498Glu). This variant is present in population databases (rs144276162, gnomAD 0.06%). 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: 290269). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid 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. |
Ambry Genetics | RCV002522019 | SCV003544832 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.4492C>G (p.Q1498E) alteration is located in exon 35 (coding exon 34) of the SYNE1 gene. This alteration results from a C to G substitution at nucleotide position 4492, causing the glutamine (Q) at amino acid position 1498 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000713664 | SCV003826478 | uncertain significance | not provided | 2019-03-22 | criteria provided, single submitter | clinical testing |