ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)

gnomAD frequency: 0.00007  dbSNP: rs765173966
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816208 SCV000956705 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406859 SCV002721206 uncertain significance Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing The p.R629Q variant (also known as c.1886G>A), located in coding exon 12 of the FLNC gene, results from a G to A substitution at nucleotide position 1886. The arginine at codon 629 is replaced by glutamine, an amino acid with highly similar properties. This variant has been reported in a dilated cardiomyopathy (DCM) cohort; however, clinical details were limited (Janin A et al. Clin Genet, 2017 Dec;92:616-623). This amino acid position is 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.
Revvity Omics, Revvity RCV001702721 SCV003831403 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486933 SCV004240618 uncertain significance Cardiomyopathy 2023-06-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702721 SCV001929185 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702721 SCV001971584 uncertain significance not provided no assertion criteria provided clinical testing

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