Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313349 | SCV000739049 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-12-02 | criteria provided, single submitter | clinical testing | The p.Y775H variant (also known as c.2323T>C), located in coding exon 15 of the FLNA gene, results from a T to C substitution at nucleotide position 2323. The tyrosine at codon 775 is replaced by histidine, an amino acid with similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele was absent out of 2355 total male alleles studied. In the ESP, the C allele has an overall frequency of less than 0.01% (1/7660) total female alleles studied. Based on data from ExAC, the C allele has an overall frequency less than 0.01% (2/45853) total alleles studied, with one hemizygote. This amino acid position is not well conserved in available 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 | RCV000704079 | SCV000833013 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-31 | criteria provided, single submitter | clinical testing |