Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592000 | SCV000703734 | uncertain significance | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001240469 | SCV001413414 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-06-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 4273 of the SYNE1 protein (p.Glu4273Val). This variant is present in population databases (rs145639107, gnomAD 0.04%). 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: 498624). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 | RCV002531028 | SCV003591513 | uncertain significance | Inborn genetic diseases | 2021-11-15 | criteria provided, single submitter | clinical testing | The c.12818A>T (p.E4273V) alteration is located in exon 77 (coding exon 76) of the SYNE1 gene. This alteration results from a A to T substitution at nucleotide position 12818, causing the glutamic acid (E) at amino acid position 4273 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000592000 | SCV003825285 | uncertain significance | not provided | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592000 | SCV004022690 | uncertain significance | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |