ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.352+3C>T

gnomAD frequency: 0.00001  dbSNP: rs750255204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302095 SCV001491289 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2021-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the FLNC gene. It does not directly change the encoded amino acid sequence of the FLNC protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs750255204, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Institute of Human Genetics, University of Wuerzburg RCV003325994 SCV004032151 uncertain significance Hypertrophic cardiomyopathy 26 no assertion criteria provided clinical testing

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