ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)

gnomAD frequency: 0.00006  dbSNP: rs747196571
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688063 SCV000815660 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001592869 SCV001826691 likely benign not provided 2020-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28356264, 26688388)
AiLife Diagnostics, AiLife Diagnostics RCV001592869 SCV002503369 uncertain significance not provided 2020-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352127 SCV002661323 uncertain significance Cardiovascular phenotype 2023-01-19 criteria provided, single submitter clinical testing The p.R2045Q variant (also known as c.6134G>A), located in coding exon 37 of the FLNC gene, results from a G to A substitution at nucleotide position 6134. The arginine at codon 2045 is replaced by glutamine, an amino acid with highly similar properties. This variant has been detected in hypertrophic cardiomyopathy and dilated cardiomyopathy cohorts; and in some cases, it co-occurred with other variants in cardiomyopathy-related genes, and, in one family, did not appear to be segregating with disease (Chanavat V et al. Clin. Chim. Acta, 2016 Jan;453:80-5; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10; Gao J et al. Int J Mol Sci, 2020 Apr;21). This amino acid position is not well 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.
Clinical Genetics, Academic Medical Center RCV001592869 SCV001924558 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001592869 SCV001976253 uncertain significance not provided no assertion criteria provided clinical testing

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