Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV003226041 | SCV003922128 | uncertain significance | Distal myopathy with posterior leg and anterior hand involvement | 2023-05-02 | criteria provided, single submitter | curation | The heterozygous c.700-2A>G variant in FLNC was identified by our study in one individual with distal myopathy. The c.700-2A>G variant in FLNC has not been previously identified in individuals with distal myopathy 4. This variant was absent from large population studies. This variant is located in the 5' splice region. Computational tools predict a splicing impact, though this information is not predictive enough to determine pathogenicity. Heterozygous loss of function is an established disease mechanism of distal myopathy 4. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PVS1_Strong, PM2_Supporting (Richards 2015). |