Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527473 | SCV000651051 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002341420 | SCV002643462 | uncertain significance | Cardiovascular phenotype | 2023-02-27 | criteria provided, single submitter | clinical testing | The p.R1657Q variant (also known as c.4970G>A), located in coding exon 30 of the FLNC gene, results from a G to A substitution at nucleotide position 4970. The arginine at codon 1657 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003144355 | SCV003833081 | uncertain significance | not provided | 2021-10-06 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486879 | SCV004240653 | uncertain significance | Cardiomyopathy | 2023-05-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003144355 | SCV004564580 | uncertain significance | not provided | 2023-11-09 | criteria provided, single submitter | clinical testing | The FLNC c.4970G>A; p.Arg1657Gln variant (rs374294752) is reported in the literature in one individual affected with hypokalemic periodic paralysis and in one healthy individual (Krutish 2023, Sagray 2022). This variant is also reported in ClinVar (Variation ID: 472082). This variant is found in the general population with an overall allele frequency of 0.01% (29/280592 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.277). Due to limited information, the clinical significance of the p.Arg1657Gln variant is uncertain at this time. References: Krutish A et al. A novel WFS1 variant associated with isolated congenital cataracts. Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006259. PMID: 36781206. Sagray E et al. Cardiac arrhythmias in primary hypokalemic periodic paralysis: Case report and literature review. HeartRhythm Case Rep. 2022 May 21;8(10):719-723. PMID: 36310724. |