Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726523 | SCV000345222 | uncertain significance | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726523 | SCV000577398 | uncertain significance | not provided | 2017-03-31 | criteria provided, single submitter | clinical testing | The M3131T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M3131T variant is observed in 3/6610 (0.05%) alleles from individuals of Finnish background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. However, this variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV002522032 | SCV003264070 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3131 of the SYNE1 protein (p.Met3131Thr). This variant is present in population databases (rs756079906, gnomAD 0.09%). 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: 290630). 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: "Benign"; Align-GVGD: "Class C25"). 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. |
Revvity Omics, |
RCV000726523 | SCV003825216 | uncertain significance | not provided | 2019-08-21 | criteria provided, single submitter | clinical testing |