Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040758 | SCV001204347 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the FLNC gene. It does not directly change the encoded amino acid sequence of the FLNC protein. This variant is present in population databases (rs769599454, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of congenital myopathy (PMID: 31127727, 32112656). ClinVar contains an entry for this variant (Variation ID: 839076). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |