Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713640 | SCV000844267 | uncertain significance | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001070277 | SCV001235499 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-13 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 586724). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs200800604, gnomAD 0.04%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 7708 of the SYNE1 protein (p.Leu7708Val). |