ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)

gnomAD frequency: 0.00003  dbSNP: rs374294752
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Total submissions: 5
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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, Revvity RCV003144355 SCV003833081 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486879 SCV004240653 uncertain significance Cardiomyopathy 2023-05-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, 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.

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