Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805539 | SCV000945497 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388515 | SCV002698226 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-13 | criteria provided, single submitter | clinical testing | The p.A485V variant (also known as c.1454C>T), located in coding exon 9 of the FLNA gene, results from a C to T substitution at nucleotide position 1454. The alanine at codon 485 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003928279 | SCV004739090 | likely benign | FLNA-related condition | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |