Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703780 | SCV000832698 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs138691290, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1586 of the SYNE1 protein (p.Ile1586Val). ClinVar contains an entry for this variant (Variation ID: 580292). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
Eurofins Ntd Llc |
RCV000732236 | SCV000860159 | uncertain significance | not provided | 2018-03-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000732236 | SCV001880875 | uncertain significance | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732236 | SCV003824571 | uncertain significance | not provided | 2019-06-05 | criteria provided, single submitter | clinical testing |