Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804565 | SCV000944481 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726333 | SCV001962095 | likely benign | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001726333 | SCV001989846 | uncertain significance | not provided | 2019-05-17 | criteria provided, single submitter | clinical testing | Reported in 1/307 healthy Chinese control individuals (Cui et al., 2018), although family history and segregation studies were not reported; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30411535) |
Ambry Genetics | RCV002397632 | SCV002705337 | uncertain significance | Cardiovascular phenotype | 2021-04-30 | criteria provided, single submitter | clinical testing | The p.P539L variant (also known as c.1616C>T), located in coding exon 10 of the FLNC gene, results from a C to T substitution at nucleotide position 1616. The proline at codon 539 is replaced by leucine, an amino acid with similar properties. This variant was detected in an individual with exercise-related sudden cardiac arrest (Asatryan B et al. Am J Cardiol, 2019 06;123:2031-2038), and in a healthy control in a hypertrophic cardiomyopathy (HCM) cohort (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |