Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000198414 | SCV000250394 | uncertain significance | not provided | 2014-08-12 | criteria provided, single submitter | clinical testing | p.Val1855Ile (GTC>ATC): c.5563 G>A in exon 34 of the FLNA gene (NM_001456.3)A variant of unknown significance has been identified in the FLNA gene. The V1855I variant has not been published as a mutation or as a benign polymorphism to our knowledge. The V1855I variant was not observed in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In addition, this substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, the V1855I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. No missense mutations in nearby residues have been reported in association with disease, indicating this region of the protein is tolerant of change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAAD |
| Labcorp Genetics |
RCV002517179 | SCV003260010 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2022-12-08 | criteria provided, single submitter | clinical testing |