ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)

gnomAD frequency: 0.00001  dbSNP: rs746685461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242034 SCV001415095 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 2603 of the FLNC protein (p.Leu2603Phe). This variant is present in population databases (rs746685461, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. ClinVar contains an entry for this variant (Variation ID: 967192). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002411892 SCV002674751 uncertain significance Cardiovascular phenotype 2023-06-22 criteria provided, single submitter clinical testing The p.L2603F variant (also known as c.7807C>T), located in coding exon 47 of the FLNC gene, results from a C to T substitution at nucleotide position 7807. The leucine at codon 2603 is replaced by phenylalanine, an amino acid with highly similar 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 RCV003145467 SCV003833108 uncertain significance not provided 2019-07-18 criteria provided, single submitter clinical testing

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