ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2390-10_2406del

dbSNP: rs1554398674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541523 SCV000659717 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-04 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 16 (c.2390-10_2406del) of the FLNC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). 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: 478125). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001591309 SCV001822432 pathogenic not provided 2021-03-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Deletion of 27 nucleotide bases that spans the canonical splice acceptor site of intron 15 in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)

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