Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064360 | SCV001229257 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2022-10-13 | 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 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"). ClinVar contains an entry for this variant (Variation ID: 858480). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs377480048, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2157 of the SYNE2 protein (p.Met2157Thr). |
Ambry Genetics | RCV002553957 | SCV003686623 | uncertain significance | Inborn genetic diseases | 2022-03-21 | criteria provided, single submitter | clinical testing | The c.6470T>C (p.M2157T) alteration is located in exon 43 (coding exon 42) of the SYNE2 gene. This alteration results from a T to C substitution at nucleotide position 6470, causing the methionine (M) at amino acid position 2157 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |