Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV000851369 | SCV002556730 | likely pathogenic | Heterotopia, periventricular, X-linked dominant | 2022-06-20 | criteria provided, single submitter | clinical testing | The FLNA c.1119C>G variant is classified as LIKELY PATHOGENIC (PVS1, PM2) The FLNA c.1119C>G variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 373. This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs782121971) and has been reported as Likely pathogenic by other diagnostic laboratories (ClinVar Variation ID: 626251). It has not been reported in HGMD. |
Molecular Genetics Center, |
RCV000851369 | SCV000891779 | likely pathogenic | Heterotopia, periventricular, X-linked dominant | no assertion criteria provided | research |