Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585445 | SCV000590283 | uncertain significance | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31918855) |
Ce |
RCV000585445 | SCV000693254 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649125 | SCV000770950 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262958 | SCV001441017 | uncertain significance | Hypertrophic cardiomyopathy 26 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000585445 | SCV001714857 | uncertain significance | not provided | 2020-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350109 | SCV002645667 | uncertain significance | Cardiovascular phenotype | 2022-11-09 | criteria provided, single submitter | clinical testing | The p.T1664M variant (also known as c.4991C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 4991. The threonine at codon 1664 is replaced by methionine, an amino acid with similar properties. This variant has been detected in individuals from dilated cardiomyopathy and left ventricular noncompaction cohorts; however, clinical details were limited, and other genetic variants were detected in the latter case (Liu S et al. Int J Cardiol. 2020 03;302:117-123; Mori V et al. Int J Cardiol Heart Vasc. 2022 Jun;40:101023). This variant was also detected in an individual from a suspected drug-induced arrhythmia and sudden death cohort, and in an individual with short stature, brachydactyly, intellectual and developmental disability and seizures syndrome who also had a mutation in the PRMT7 gene and reportedly normal echocardiogram (Martinez-Matilla M et al. Forensic Sci Int Genet, 2019 09;42:203-212; Agolini E et al. Clin. Genet., 2018 03;93:675-681). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000585445 | SCV003833159 | uncertain significance | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing |