Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598464 | SCV000707610 | uncertain significance | not provided | 2017-04-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000598464 | SCV001145901 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001349372 | SCV001543714 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-08-04 | 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. 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: 501297). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs747824937, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 5399 of the SYNE1 protein (p.Asp5399Gly). |
Revvity Omics, |
RCV000598464 | SCV003826350 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing |