ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)

gnomAD frequency: 0.00002  dbSNP: rs572132215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045725 SCV001209596 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-21 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823753 SCV002073452 uncertain significance not specified 2022-01-19 criteria provided, single submitter clinical testing This missense variant results in a substitution of arginine with glutamine at codon 1354 of the FLNC gene (transcript NM_001458.4). This variant has been reported in ClinVar (843171) NM_001458.5 (FLNC):c.4061G>A (p.Arg1354Gln) and occurred in GnomAD with a total MAF of 0.0029% and highest MAF of 0.0097% in the South Asian population. This position is conserved. In silico functional algorithms agree, predicting it as benign (PolyPhen/REVEL) and tolerated (SIFT), but no functional studies were performed to confirm these predictions. The variant has not occurred in the literature associated with the disease. In conclusion, the available evidence is insufficient to determine the pathogenicity of this variant. Therefore, it is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002320260 SCV002631350 uncertain significance Cardiovascular phenotype 2023-08-07 criteria provided, single submitter clinical testing The p.R1354Q variant (also known as c.4061G>A), located in coding exon 23 of the FLNC gene, results from a G to A substitution at nucleotide position 4061. The arginine at codon 1354 is replaced by glutamine, an amino acid with highly similar 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.

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