Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807730 | SCV000947799 | pathogenic | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2019-06-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant results in an extension of the FLNA protein. Other variant(s) that result in a similarly extended protein product (p.*2640Serext*100) have been determined to be pathogenic (PMID: 23873601, 28428218). This suggests that these extensions are likely to be causative of disease. This variant has been observed in an individual affected with periventricular heterotopia (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the FLNA gene (p.Glu2617Valfs*124). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the FLNA protein and extend the protein by an additional 101 amino acids. |