ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)

dbSNP: rs112180788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689353 SCV000817001 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-19 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: 568863). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2673 of the FLNC protein (p.His2673Gln).
Ambry Genetics RCV002422487 SCV002678700 uncertain significance Cardiovascular phenotype 2020-03-16 criteria provided, single submitter clinical testing The p.H2673Q variant (also known as c.8019C>G), located in coding exon 48 of the FLNC gene, results from a C to G substitution at nucleotide position 8019. The histidine at codon 2673 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly 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 RCV003144501 SCV003831400 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing

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