Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593514 | SCV000706910 | uncertain significance | not provided | 2017-03-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000808708 | SCV000948823 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 7816 of the SYNE1 protein (p.Val7816Met). This variant is present in population databases (rs143842011, gnomAD 0.04%). 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: 500811). 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"). 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. |
Athena Diagnostics Inc | RCV000593514 | SCV001475609 | uncertain significance | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000593514 | SCV003822792 | uncertain significance | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing |