Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002351493 | SCV002645826 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-04-17 | criteria provided, single submitter | clinical testing | The c.5108_5110delTCT variant (also known as p.F1703del) is located in coding exon 29 of the FLNA gene. This variant results from an in-frame TCT deletion at nucleotide positions 5108 to 5110. This results in the in-frame deletion of a phenylalanine at codon 1703. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV005213688 | SCV005860752 | uncertain significance | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-08-31 | criteria provided, single submitter | clinical testing | This variant, c.5108_5110del, results in the deletion of 1 amino acid(s) of the FLNA protein (p.Phe1703del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1745377). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |