Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000289729 | SCV000345068 | uncertain significance | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765877 | SCV000897277 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765877 | SCV003280996 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-08 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 290501). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs748499952, gnomAD 0.009%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3364 of the SYNE1 protein (p.Pro3364Leu). |
Revvity Omics, |
RCV000289729 | SCV003825214 | uncertain significance | not provided | 2019-07-17 | criteria provided, single submitter | clinical testing |