Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001871351 | SCV002150844 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-04-09 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 4124 of the SYNE1 protein (p.Lys4124Asn). This variant is present in population databases (rs149536991, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. 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. 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. |
| Ambry Genetics | RCV002552926 | SCV003700970 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.12372G>T (p.K4124N) alteration is located in exon 76 (coding exon 75) of the SYNE1 gene. This alteration results from a G to T substitution at nucleotide position 12372, causing the lysine (K) at amino acid position 4124 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Revvity Omics, |
RCV003136250 | SCV003824701 | uncertain significance | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV003136250 | SCV005189305 | uncertain significance | not provided | criteria provided, single submitter | not provided |