Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180405 | SCV000232832 | uncertain significance | not provided | 2017-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000647614 | SCV000769412 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-09-17 | 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 5119 of the SYNE1 protein (p.Gln5119Glu). This variant is present in population databases (rs138368397, gnomAD 0.09%), and has an allele count higher than expected for a pathogenic variant. 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: 198942). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
Gene |
RCV000180405 | SCV001785408 | uncertain significance | not provided | 2021-05-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics Inc | RCV001657961 | SCV001880814 | likely benign | not specified | 2021-03-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000180405 | SCV003826322 | uncertain significance | not provided | 2023-07-19 | criteria provided, single submitter | clinical testing |