Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594648 | SCV000707099 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000594648 | SCV002771398 | uncertain significance | not provided | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532554 | SCV002986642 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-15 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1911 of the SYNE1 protein (p.Leu1911Met). This variant is present in population databases (rs372724272, gnomAD 0.005%). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 500933). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. |