Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198128 | SCV000250328 | benign | not specified | 2014-08-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000640796 | SCV000762395 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298255 | SCV003994212 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-06-20 | criteria provided, single submitter | clinical testing | The c.2205C>T variant (also known as p.Y735Y), located in coding exon 14 of the FLNA gene, results from a C to T substitution at nucleotide position 2205. This nucleotide substitution does not change the tyrosine at codon 735. Based on data from gnomAD, the T allele has an overall frequency of 0.0064% (13/203434) total alleles studied, with 3 hemizygote(s) observed. The highest observed frequency was 0.0107% (3/28003) of Latino alleles. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |