ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1412-5C>T

gnomAD frequency: 0.00001  dbSNP: rs765122668
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001405476 SCV001607399 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390840 SCV002696520 uncertain significance Cardiovascular phenotype 2022-04-29 criteria provided, single submitter clinical testing The c.1412-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 9 in the FLNC gene. This nucleotide position is not well 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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