Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001062082 | SCV001226856 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-06-04 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 6984 of the SYNE1 protein (p.Ala6984Pro). This variant is present in population databases (rs772233604, gnomAD 0.002%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 856588). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. |
| Ambry Genetics | RCV002553914 | SCV003588244 | uncertain significance | Inborn genetic diseases | 2021-10-29 | criteria provided, single submitter | clinical testing | The c.20950G>C (p.A6984P) alteration is located in exon 114 (coding exon 113) of the SYNE1 gene. This alteration results from a G to C substitution at nucleotide position 20950, causing the alanine (A) at amino acid position 6984 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |