ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)

dbSNP: rs371483562
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699358 SCV000828064 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-11-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788675 SCV000927867 uncertain significance not provided 2018-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360788 SCV002624704 uncertain significance Cardiovascular phenotype 2024-02-09 criteria provided, single submitter clinical testing The p.R1267W variant (also known as c.3799C>T), located in coding exon 22 of the FLNC gene, results from a C to T substitution at nucleotide position 3799. The arginine at codon 1267 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration has been reported in a healthy control population in a hypertrophic cardiomyopathy study (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:[ePub ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493217 SCV002785087 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-07-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000788675 SCV003831405 uncertain significance not provided 2020-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000788675 SCV003921731 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing Reported previously in a cohort of healthy controls in a study of individuals with hypertrophic cardiomyopathy (Gomez et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28356264)

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