ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)

gnomAD frequency: 0.00004  dbSNP: rs746349463
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649163 SCV000770988 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-05-17 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLNC protein function. ClinVar contains an entry for this variant (Variation ID: 539429). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). This variant is present in population databases (rs746349463, gnomAD 0.008%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2540 of the FLNC protein (p.Val2540Leu).
CeGaT Center for Human Genetics Tuebingen RCV003144443 SCV001155281 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing FLNC: PM2:Supporting, PP3
Ambry Genetics RCV002388128 SCV002671864 uncertain significance Cardiovascular phenotype 2024-02-23 criteria provided, single submitter clinical testing The p.V2540L variant (also known as c.7618G>C), located in coding exon 46 of the FLNC gene, results from a G to C substitution at nucleotide position 7618. The valine at codon 2540 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV003144443 SCV003833146 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing

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