ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp)

gnomAD frequency: 0.00003  dbSNP: rs756353876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703314 SCV000832211 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001771996 SCV001992941 uncertain significance not provided 2019-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002386260 SCV002671008 uncertain significance Cardiovascular phenotype 2021-10-28 criteria provided, single submitter clinical testing The p.R2437W variant (also known as c.7309C>T), located in coding exon 44 of the FLNC gene, results from a C to T substitution at nucleotide position 7309. The arginine at codon 2437 is replaced by tryptophan, an amino acid with dissimilar properties. 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 RCV001771996 SCV003833171 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing

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