ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)

dbSNP: rs559667295
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Phosphorus, Inc. RCV000578070 SCV000679845 uncertain significance Primary dilated cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577934 SCV000679846 uncertain significance Distal myopathy with posterior leg and anterior hand involvement 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578011 SCV000679847 uncertain significance Hypertrophic cardiomyopathy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578090 SCV000679848 uncertain significance Myofibrillar myopathy 5 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577958 SCV000679849 uncertain significance Hypertrophic cardiomyopathy 26 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001308487 SCV001497942 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1522 of the FLNC protein (p.Gln1522His). This variant is not present in population databases (gnomAD no frequency). 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: 488164). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FLNC protein function. 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.

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