Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820348 | SCV000961057 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002251521 | SCV002522035 | uncertain significance | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | Observed in an individual with limb girdle muscular dystrophy, who also harbored an additional variant of uncertain significance in MYH7 (Savarese et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25214167) |
Ambry Genetics | RCV002332701 | SCV002627537 | uncertain significance | Cardiovascular phenotype | 2023-07-27 | criteria provided, single submitter | clinical testing | The p.R1434C variant (also known as c.4300C>T), located in coding exon 25 of the FLNC gene, results from a C to T substitution at nucleotide position 4300. The arginine at codon 1434 is replaced by cysteine, an amino acid with highly dissimilar properties. 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. |
ARUP Laboratories, |
RCV002251521 | SCV004563265 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | The FLNC c.4300C>T; p.Arg1434Cys variant (rs536331212), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 662657). This variant is found on four alleles in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.691). Due to limited information, the clinical significance of this variant is uncertain at this time. |