Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235075 | SCV000956637 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422830 | SCV002717685 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-06-25 | criteria provided, single submitter | clinical testing | The p.A666G variant (also known as c.1997C>G), located in coding exon 12 of the FLNA gene, results from a C to G substitution at nucleotide position 1997. The alanine at codon 666 is replaced by glycine, an amino acid with similar properties. Based on data from the Genome Aggregation Database (gnomAD), the G allele has an overall frequency of <0.01% (5/201533) total alleles studied. The highest observed frequency was 0.02% (4/18102) of African alleles This amino acid position is 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. |