Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000713675 | SCV000344789 | uncertain significance | not provided | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713675 | SCV000844302 | uncertain significance | not provided | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803436 | SCV000943307 | uncertain significance | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 1731 of the SYNE1 protein (p.Phe1731Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs141996707, ExAC 0.06%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 290268). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |