Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516903 | SCV000615637 | uncertain significance | not specified | 2017-06-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000998700 | SCV001154911 | uncertain significance | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001212492 | SCV001384076 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-07-10 | 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 arginine, which is basic and polar, with lysine, which is basic and polar, at codon 7919 of the SYNE1 protein (p.Arg7919Lys). This variant is present in population databases (rs777371816, gnomAD 0.004%). 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: 448587). 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. |
Revvity Omics, |
RCV000998700 | SCV003826353 | uncertain significance | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing |