ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)

gnomAD frequency: 0.00007  dbSNP: rs201912847
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532440 SCV000650991 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508593 SCV001714855 uncertain significance not provided 2019-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001508593 SCV001991422 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 472042; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31245841)
Ambry Genetics RCV002341413 SCV002619429 uncertain significance Cardiovascular phenotype 2020-09-10 criteria provided, single submitter clinical testing The p.V1198L variant (also known as c.3592G>C), located in coding exon 21 of the FLNC gene, results from a G to C substitution at nucleotide position 3592. The valine at codon 1198 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001508593 SCV003833178 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing

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