Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389179 | SCV001590447 | pathogenic | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2020-01-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln989*) in the FLNA gene. It is expected to result in an absent or disrupted protein product. 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). This variant has been observed in individual(s) with periventricular nodular heterotopia (PMID: 29738522). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). |