Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647632 | SCV000769430 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-08-24 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 538392). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs375476506, gnomAD 0.05%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 8360 of the SYNE1 protein (p.His8360Arg). |
Athena Diagnostics Inc | RCV000713648 | SCV000844275 | benign | not provided | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000713648 | SCV003824732 | uncertain significance | not provided | 2020-10-25 | criteria provided, single submitter | clinical testing |