Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553794 | SCV000639828 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377082 | SCV002667137 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-08-02 | criteria provided, single submitter | clinical testing | The p.I2394T variant (also known as c.7181T>C), located in coding exon 43 of the FLNA gene, results from a T to C substitution at nucleotide position 7181. The isoleucine at codon 2394 is replaced by threonine, an amino acid with similar properties. Based on data from gnomAD, the C allele has an overall frequency of 0.0033% (6/181756) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was 0.0074% (6/81483) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003480675 | SCV004225694 | uncertain significance | not provided | 2022-10-27 | criteria provided, single submitter | clinical testing | PP2, PP3 |