ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)

gnomAD frequency: 0.00003  dbSNP: rs372172779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697305 SCV000825905 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs372172779, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2650 of the FLNC protein (p.Val2650Met). This missense change has been observed in individual(s) with clinical features of FLNC-related conditions (Invitae). 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: 575164).
Ambry Genetics RCV002422538 SCV002677979 uncertain significance Cardiovascular phenotype 2022-10-21 criteria provided, single submitter clinical testing The p.V2650M variant (also known as c.7948G>A), located in coding exon 47 of the FLNC gene, results from a G to A substitution at nucleotide position 7948. The valine at codon 2650 is replaced by methionine, 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.
Fulgent Genetics, Fulgent Genetics RCV002485698 SCV002785897 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144538 SCV003833137 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing

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