Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727362 | SCV000707864 | pathogenic | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000727362 | SCV001476985 | uncertain significance | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001380011 | SCV001577935 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-08-23 | criteria provided, single submitter | clinical testing | Disruption of this splice site has been observed in individual(s) with cerebellar ataxia (PMID: 17159980). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 465779). This variant is present in population databases (rs759460806, gnomAD 0.007%). This sequence change affects an acceptor splice site in intron 84 of the SYNE1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 19542096, 24319099, 27086870). |
Revvity Omics, |
RCV000727362 | SCV002016824 | likely pathogenic | not provided | 2019-08-07 | criteria provided, single submitter | clinical testing |