ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr)

dbSNP: rs764628080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649115 SCV000770940 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-11-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FLNC-related conditions. 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: 539387). This variant is present in population databases (rs764628080, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2440 of the FLNC protein (p.Ile2440Thr).
GeneDx RCV001771893 SCV002002522 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004025770 SCV003757569 uncertain significance Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing The c.7319T>C (p.I2440T) alteration is located in exon 44 (coding exon 44) of the FLNC gene. This alteration results from a T to C substitution at nucleotide position 7319, causing the isoleucine (I) at amino acid position 2440 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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