Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382273 | SCV001580954 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-09-15 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 31317183, 31627847). This sequence change creates a premature translational stop signal (p.Leu1573*) 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). ClinVar contains an entry for this variant (Variation ID: 1070209). For these reasons, this variant has been classified as Pathogenic. |