Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558130 | SCV000651142 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566239 | SCV001789727 | uncertain significance | not provided | 2021-08-03 | criteria provided, single submitter | clinical testing | Identified in a patient with dilated cardiomyopathy in the published literature (Ader et al., 2018); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472152; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect This variant is associated with the following publications: (PMID: 30418145) |
Ambry Genetics | RCV002367925 | SCV002664311 | uncertain significance | Cardiovascular phenotype | 2023-08-14 | criteria provided, single submitter | clinical testing | The p.P2308L variant (also known as c.6923C>T), located in coding exon 41 of the FLNC gene, results from a C to T substitution at nucleotide position 6923. The proline at codon 2308 is replaced by leucine, an amino acid with similar properties. This alteration has been detected in individuals reported to have cardiomyopathy; however, details were limited (Ader F et al. Med Sci (Paris), 2018 Nov;34 Hors série n°2:39-41; Smith E et al. J Am Heart Assoc. 2022 May;11(9):e024501). 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. |