Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595550 | SCV000708276 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001860209 | SCV002292438 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-03-12 | 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 501781). This variant is present in population databases (rs775685010, ExAC 0.009%). This sequence change replaces alanine with threonine at codon 5655 of the SYNE1 protein (p.Ala5655Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |