Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725324 | SCV000336053 | uncertain significance | not provided | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000389145 | SCV000597335 | uncertain significance | not specified | 2016-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000791683 | SCV000930943 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-19 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 121 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368678916, gnomAD 0.03%). 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: 283751). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Mayo Clinic Laboratories, |
RCV000725324 | SCV002542244 | uncertain significance | not provided | 2021-04-13 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725324 | SCV002771410 | uncertain significance | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing. |