Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001722382 | SCV000329172 | likely benign | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000278667 | SCV000359951 | likely benign | Progressive external ophthalmoplegia with mitochondrial DNA deletions | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000352301 | SCV000359952 | likely benign | Ataxia Neuropathy Spectrum Disorders | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000406261 | SCV000359953 | likely benign | Autosomal recessive cerebellar ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000312773 | SCV000359954 | likely benign | Mitochondrial DNA depletion syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336025 | SCV001529302 | uncertain significance | Infantile onset spinocerebellar ataxia | 2018-10-15 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome Diagnostics Laboratory, |
RCV001848044 | SCV002106285 | uncertain significance | Hereditary spastic paraplegia | 2017-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001722382 | SCV002110351 | uncertain significance | not provided | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 684 of the TWNK protein (p.Lys684Gln). This variant is present in population databases (rs369223258, gnomAD 0.01%). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 35982159). ClinVar contains an entry for this variant (Variation ID: 279716). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TWNK protein function with a negative predictive value of 95%. 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, |
RCV001722382 | SCV004225321 | uncertain significance | not provided | 2022-04-18 | criteria provided, single submitter | clinical testing | BP4 |