Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517152 | SCV000615680 | uncertain significance | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000819844 | SCV000960526 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-09-04 | 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. This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2335 of the SYNE1 protein (p.Met2335Ile). This variant is present in population databases (rs372524102, gnomAD 0.003%). 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: 448608). 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 tolerated. |
Revvity Omics, |
RCV000517152 | SCV003824574 | uncertain significance | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing |