Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193102 | SCV000247387 | uncertain significance | not specified | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000193102 | SCV000297012 | uncertain significance | not specified | 2015-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314817 | SCV000739114 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-07-11 | criteria provided, single submitter | clinical testing | The p.T413M variant (also known as c.1238C>T), located in coding exon 8 of the FLNA gene, results from a C to T substitution at nucleotide position 1238. The threonine at codon 413 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001041470 | SCV001205091 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566737 | SCV001790303 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21520333) |