ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1506G>A (p.Lys502=)

gnomAD frequency: 0.00001  dbSNP: rs749823564
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001985397 SCV002223123 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-12-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs749823564, gnomAD 0.006%). This sequence change affects codon 502 of the FLNC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FLNC protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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