Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000405818 | SCV000343974 | uncertain significance | not provided | 2016-07-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000405818 | SCV001250181 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001349999 | SCV001544369 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 744 of the SYNE1 protein (p.Val744Ala). This variant is present in population databases (rs746347703, gnomAD 0.01%). 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: 289589). 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: "Possibly Damaging"; 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. |
Revvity Omics, |
RCV000405818 | SCV003825224 | uncertain significance | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing |