Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382474 | SCV001581249 | pathogenic | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2020-05-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val983Glyfs*45) in the FLNA gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FLNA-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FLNA are known to be pathogenic (PMID: 16684786, 20730588, 26471271). |