Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000368276 | SCV000345539 | uncertain significance | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803669 | SCV000943551 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-06-04 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 290881). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs199962439, gnomAD 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 577 of the SYNE1 protein (p.Tyr577His). |
Athena Diagnostics Inc | RCV000368276 | SCV001145904 | uncertain significance | not provided | 2018-12-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000368276 | SCV003825225 | uncertain significance | not provided | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000368276 | SCV004223970 | uncertain significance | not provided | 2023-06-05 | criteria provided, single submitter | clinical testing |