Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726432 | SCV000344586 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000387198 | SCV000615595 | uncertain significance | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001232875 | SCV001405447 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 6149 of the SYNE1 protein (p.Arg6149Ser). This variant is present in population databases (rs201685248, gnomAD 0.05%). This missense change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 34602496). ClinVar contains an entry for this variant (Variation ID: 290091). 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 |
RCV000726432 | SCV002104354 | uncertain significance | not provided | 2022-02-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported previously in a child with Emery-Dreifuss Muscular Dystrophy 4; however it is unclear if the individual was heterozygous or homozygous for the variant (Megarbane et al., 2021); This variant is associated with the following publications: (PMID: 34602496) |
Clinical Genetics, |
RCV000726432 | SCV001921536 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726432 | SCV001970945 | uncertain significance | not provided | no assertion criteria provided | clinical testing |