Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000647625 | SCV000769423 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-04-21 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 8047 of the SYNE1 protein (p.Asp8047Glu). This variant is present in population databases (rs149940427, gnomAD 0.008%). 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: 538386). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV003140034 | SCV003824600 | uncertain significance | not provided | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003147527 | SCV003836245 | uncertain significance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533387 | SCV004116811 | uncertain significance | SYNE1-related disorder | 2023-05-09 | criteria provided, single submitter | clinical testing | The SYNE1 c.24141C>G variant is predicted to result in the amino acid substitution p.Asp8047Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152472784-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |