Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000399546 | SCV000344031 | uncertain significance | not provided | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765669 | SCV004594915 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-05-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 289642). This variant is also known as c.20328G>C (p.(Trp6776Cys). This missense change has been observed in individual(s) with clinical features of SYNE1-related conditions (PMID: 31127727). This variant is present in population databases (rs539439844, gnomAD 0.009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 6705 of the SYNE1 protein (p.Trp6705Cys). 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. 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000399546 | SCV001952837 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000399546 | SCV001963720 | uncertain significance | not provided | no assertion criteria provided | clinical testing |