ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.970-5A>G

gnomAD frequency: 0.00009  dbSNP: rs199755800
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649267 SCV000771092 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001592808 SCV001825997 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369737 SCV002692196 uncertain significance Cardiovascular phenotype 2022-05-10 criteria provided, single submitter clinical testing The c.970-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 6 in the FLNC gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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