ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)

dbSNP: rs1808781579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382707 SCV001581609 pathogenic Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1840*) in the FLNC gene. It is expected to result in an absent or disrupted protein product. 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 premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 26688388). ClinVar contains an entry for this variant (Variation ID: 1070523). For these reasons, this variant has been classified as Pathogenic.

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